ClinVar Genomic variation as it relates to human health
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
Variation ID: 45016 Accession: VCV000045016.60
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12p11.21 12: 32850907 (GRCh38) [ NCBI UCSC ] 12: 33003841 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 6, 2014 Dec 22, 2024 Sep 16, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001005242.3:c.1237C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001005242.2:p.Arg413Ter nonsense NM_004572.4:c.1237C>T NP_004563.2:p.Arg413Ter nonsense NC_000012.12:g.32850907G>A NC_000012.11:g.33003841G>A NG_009000.1:g.50940C>T LRG_398:g.50940C>T LRG_398t1:c.1237C>T LRG_398p1:p.Arg413Ter - Protein change
- R413*
- Other names
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p.R413*:CGA>TGA
- Canonical SPDI
- NC_000012.12:32850906:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PKP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2014 | 2069 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Sep 16, 2024 | RCV000038155.14 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Feb 3, 2022 | RCV000183740.32 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jan 27, 2024 | RCV000471559.19 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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May 9, 2023 | RCV001170218.8 | |
PKP2-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Mar 5, 2024 | RCV003952434.2 |
Pathogenic (1) |
criteria provided, single submitter
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Nov 7, 2021 | RCV000588929.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 4, 2024 | RCV000619035.4 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 14, 2020)
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criteria provided, single submitter
Method: research
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
unknown
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI_GT
Accession: SCV001192819.1 First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
Number of individuals with the variant: 1
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Pathogenic
(Nov 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial isolated arrhythmogenic right ventricular dysplasia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698461.2
First in ClinVar: Mar 17, 2018 Last updated: Dec 25, 2021 |
Comment:
Variant summary: PKP2 c.1237C>T (p.Arg413X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: PKP2 c.1237C>T (p.Arg413X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 252358 control chromosomes. c.1237C>T has been reported in the literature in multiple individuals affected with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (example, Syrris_2006, Fressart_2010, den Haan_2009, Tan_2010, Unsoeld_2006, Unsoeld_2009). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function in an animal model. The most pronounced variant effect results in a recapitulation of the right ventricular phenotype in a transgenic mouse overexpressing this variant (Unsoeld_2009). Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Feb 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000236220.13
First in ClinVar: Jul 05, 2015 Last updated: Mar 04, 2023 |
Comment:
Observed in multiple unrelated patients with ARVC referred for genetic testing at GeneDx and in published literature (Syrris et al., 2006; den Haan et al., … (more)
Observed in multiple unrelated patients with ARVC referred for genetic testing at GeneDx and in published literature (Syrris et al., 2006; den Haan et al., 2009; Unsoeld et al., 2009; Fressart et al., 2010; Tan et al., 2010; Quarta et al., 2011; Philips et al., 2014; Alcalde et al., 2014; Walsh et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21606390, 27831900, 23299917, 25447171, 25637381, 25525159, 24967631, 20031617, 20857253, 20400443, 24585727, 16415378, 27532257, 28471438, 23812740, 32659924, 32372669, 31386562, 31402444, 31156706, 33684294, 26314686, 29997227, 30790397, 28588093, 29606362, 33087929, 32686758, 33232181, 26582918, 27535533) (less)
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Pathogenic
(Sep 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061821.7
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Arg413X variant in PKP2 has been identified in multiple individuals with ARVC and segregated with disease in at least 4 affected relatives from three … (more)
The p.Arg413X variant in PKP2 has been identified in multiple individuals with ARVC and segregated with disease in at least 4 affected relatives from three families (Syrris 2006 PMID: 16415378, Unsold 2006, Unsoeld 2009, den Haan 2009 PMID: 20031617, Fressart 2010 PMID: 20400443, Tan 2010 PMID: 20857253, Quarta 2011 PMID: 21606390, Baskin 2013 PMID: 23812740, Philips 2014 PMID: 24585727, Campuzano 2014 PMID: 25447171, Walsh 2017 PMID: 27532257, LMM data). This variant has also been reported by multiple clinical laboratories in ClinVar (Variation ID 45016) and has been identified in 0.01% (4/41436) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). Overexpression of this variant in mice increased right ventricular size and shortened ventricular action potential durations (Unsoeld 2009). This nonsense variant leads to a premature termination codon at position 413, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the PKP2 gene is an established disease mechanism in autosomal dominant ARVC. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant ARVC. ACMG/AMP Criteria applied: PVS1, PS4, PS3_Moderate, PM2_Supporting, PP1. (less)
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Pathogenic
(Aug 29, 2018)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000915591.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The PKP2 c.1237C>T (p.Arg413Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. Across a selection of … (more)
The PKP2 c.1237C>T (p.Arg413Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. Across a selection of available literature, the p.Arg413Ter variant has been reported in a heterozygous state in over ten individuals with arrhythmogenic right ventricular cardiomyopathy and in one individual from a cohort of probands who died from sudden cardiac death (Syrris et al. 2006; den Haan et al. 2009; Fressart et al. 2010; Quarta et al. 2011; Alcade et al. 2014; Philips et al. 2014; Campuzano et al. 2014). The p.Arg413Ter variant was absent from 1500 control subjects and is reported at a frequency of 0.000014 in the African population of the Genome Aggregation Database. Based on the clinical evidence and the potential impact of stop-gained variants, the p.Arg413Ter variant is classified as pathogenic for arrhythmogenic right ventricular cardiomyopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Jun 17, 2019)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV001332775.2
First in ClinVar: May 31, 2020 Last updated: Jan 01, 2022 |
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Pathogenic
(Dec 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002810385.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(May 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV001342800.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 5 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 5 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over ten individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 20400443, 20857253, 21606390, 31319917, 32659924, 34191271). This variant has been shown to segregate with disease in eleven individuals from two families with arrhythmogenic cardiomyopathy (PMID:24967631, 31156706) and has also been observed in an unaffected adult family member who showed cardiac abnormalities (PMID: 31156706). This variant has also been reported in an asymptomatic individual with a family history of sudden cardiac death (PMID: 29997227). This variant has been identified in 4/282766 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PKP2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000545238.10
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg413*) in the PKP2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg413*) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 17041889, 23911551). This variant is present in population databases (rs372827156, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (PMID: 20400443, 20857253, 21606390, 24967631). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 45016). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 04, 2024)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000734891.5
First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024 |
Comment:
The p.R413* pathogenic mutation (also known as c.1237C>T), located in coding exon 5 of the PKP2 gene, results from a C to T substitution at … (more)
The p.R413* pathogenic mutation (also known as c.1237C>T), located in coding exon 5 of the PKP2 gene, results from a C to T substitution at nucleotide position 1237. This changes the amino acid from an arginine to a stop codon within coding exon 5. This alteration has been described in multiple unrelated individuals with confirmed or suspected arrhythmogenic right ventricular cardiomyopathy, and has also been reported to segregate with disease in several families (Syrris P et al. Circulation. 2006;113(3):356-64; den Haan AD et al. Circ Cardiovasc Genet. 2009;2(5):428-35; Unsoeld B et al. Circulation. 2009;120:S618; Fressart V et al. Europace. 2010;12(6):861-8; Quarta G et al. Circulation. 2011;123(23):2701-9; Campuzano O et al. Forensic Sci Int. 2014;245C:30-37; te Riele AS et al. JACC:Clin Electrophysiol. 2015;1(6):551-60; Campuzano O et al. Front Genet. 2019 May;10:450). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Sep 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004846417.2
First in ClinVar: Apr 20, 2024 Last updated: Dec 14, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant changes 1 nucleotide in exon 5 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 5 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over ten individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 20400443, 20857253, 21606390, 31319917, 32659924, 34191271). This variant has been shown to segregate with disease in eleven individuals from two families with arrhythmogenic cardiomyopathy (PMID:24967631, 31156706) and has also been observed in an unaffected adult family member who showed cardiac abnormalities (PMID: 31156706). This variant has also been reported in an asymptomatic individual with a family history of sudden cardiac death (PMID: 29997227). This variant has been identified in 4/282766 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PKP2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 7
Zygosity: Single Heterozygote
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Pathogenic
(Feb 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001501413.24
First in ClinVar: Mar 14, 2021 Last updated: Dec 22, 2024 |
Number of individuals with the variant: 4
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Pathogenic
(Mar 05, 2024)
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no assertion criteria provided
Method: clinical testing
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PKP2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004773712.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The PKP2 c.1237C>T variant is predicted to result in premature protein termination (p.Arg413*). This variant has been reported in multiple individuals with arrhythmogenic right ventricular … (more)
The PKP2 c.1237C>T variant is predicted to result in premature protein termination (p.Arg413*). This variant has been reported in multiple individuals with arrhythmogenic right ventricular cardiomyopathy (Syrris et al. 2006. PubMed ID: 16415378; Philips et al. 2014. PubMed ID: 24585727; Table S1A - Walsh et al. 2017. PubMed ID: 27532257) and an individual with sudden unexplained death (Campuzano et al. 2014. PubMed ID: 25447171). This variant has also been reported in multiple unaffected individuals (Natarajan et al. 2016. PubMed ID: 27831900; Haggerty et al. 2018. PubMed ID: 29997227). In ClinVar, this variant has been interpreted as pathogenic by multiple labs (https://www.ncbi.nlm.nih.gov/clinvar/variation/45016/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Loss-of-function variants in PKP2 are a known cause of disease and are expected to be pathogenic (Gerull et al. 2004. PubMed ID: 15489853). Based on the available evidence, this variant is interpreted as pathogenic. (less)
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Likely pathogenic
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Arrhythmogenic right ventricular dysplasia
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190459.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280408.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Arg413Stop (c.1237C>T) in the PKP2 gene. This variant has been reported in 6 unrelated individuals with ARVC (Unsoeld et al 2006, Syrris et al 2006, Wlodarska et al 2008, denHan et al 2009, Fressart et al 2010). Unsoeld et al reported a large family with 10 affected individuals all of which are genotype positive for the variant. Within this family there are 5 cases of sudden cardiac death at an early age. A majority of the deaths occurred during physical activity. The authors suggested there was a gender specific penetrance; they report all males with the variant showed symptoms while only 30 % of females with the variant exhibited symptoms. This is a nonsense variant where an Arginine codon is replaced with a Stop codon. Nonsense and splicing variants in PKP2 are the most frequent cause of ARVC. This particular variant is predicted to cause a truncated plakophilin-2 protein with the last 8 of 10 residue repeats missing from the final protein. Unsoeld et al (2009) created a mouse model overexpressing the p.Arg413Stop variant and recapitulated the morphological and electrophysiological phenotype. Syrris et al (2006) report the absence of the variant in 400 ethnically diverse controls. Wlodarska et al (2008) report not seeing the variant in 200 controls and Fressat et al (2010) did not observe the variant in 600 controls. Kapplinger et al (2011) sequenced the ARVC genes (including PKP2) in 427 presumably healthy controls of various ethnicities and did not report this variant. Thus in total the variant was not present in 1627 presumably healthy controls of mixed ancestry. (less)
Number of individuals with the variant: 7
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy. | Biernacka EK | Journal of applied genetics | 2021 | PMID: 34191271 |
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis. | Kolokotronis K | Journal of clinical medicine | 2020 | PMID: 32659924 |
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents. | DeWitt ES | Journal of the American College of Cardiology | 2019 | PMID: 31319917 |
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies. | Campuzano O | Frontiers in genetics | 2019 | PMID: 31156706 |
Managing Secondary Genomic Findings Associated With Arrhythmogenic Right Ventricular Cardiomyopathy: Case Studies and Proposal for Clinical Surveillance. | Haggerty CM | Circulation. Genomic and precision medicine | 2018 | PMID: 29997227 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. | Natarajan P | Science translational medicine | 2016 | PMID: 27831900 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Post-mortem genetic analysis in juvenile cases of sudden cardiac death. | Campuzano O | Forensic science international | 2014 | PMID: 25447171 |
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. | Alcalde M | PloS one | 2014 | PMID: 24967631 |
Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. | Philips B | Circulation. Arrhythmia and electrophysiology | 2014 | PMID: 24585727 |
Mechanistic basis of desmosome-targeted diseases. | Al-Jassar C | Journal of molecular biology | 2013 | PMID: 23911551 |
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. | Baskin B | Human genetics | 2013 | PMID: 23812740 |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. | Bhonsale A | Circulation. Arrhythmia and electrophysiology | 2013 | PMID: 23671136 |
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. | Quarta G | Circulation | 2011 | PMID: 21606390 |
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. | Tan BY | Journal of cardiovascular translational research | 2010 | PMID: 20857253 |
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. | Fressart V | Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2010 | PMID: 20400443 |
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. | den Haan AD | Circulation. Cardiovascular genetics | 2009 | PMID: 20031617 |
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. | Awad MM | Human mutation | 2006 | PMID: 17041889 |
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. | Syrris P | Circulation | 2006 | PMID: 16415378 |
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. | Gerull B | Nature genetics | 2004 | PMID: 15489853 |
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Text-mined citations for rs372827156 ...
HelpRecord last updated Dec 22, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.