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NM_001035.3(RYR2):c.14703G>C (p.Val4901=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(5);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Nov 3, 2021)
Last evaluated:
Oct 2, 2021
Accession:
VCV000167632.15
Variation ID:
167632
Description:
single nucleotide variant
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NM_001035.3(RYR2):c.14703G>C (p.Val4901=)

Allele ID
178037
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 237830577 (GRCh38) GRCh38 UCSC
1: 237993877 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_402:g.793394G>C
LRG_402t1:c.14703G>C LRG_402p1:p.Val4901=
NC_000001.10:g.237993877G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:237830576:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00019
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA008343
dbSNP: rs201371633
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000279576.2
Likely benign 1 criteria provided, single submitter Nov 30, 2016 RCV000619036.1
Likely benign 1 criteria provided, single submitter Aug 17, 2018 RCV000771788.1
Benign 1 criteria provided, single submitter Oct 2, 2021 RCV000780696.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Aug 1, 2021 RCV000153880.8
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 3, 2020 RCV000378694.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR2 No evidence available No evidence available GRCh38
GRCh37
4399 4462

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Catecholaminergic Polymorphic Ventricular Tachycardia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356495.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy, ARVC
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356496.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jan 06, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203489.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 17, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV000904474.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Nov 30, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735718.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Catecholaminergic polymorphic ventricular tachycardia
Allele origin: germline
Invitae
Accession: SCV000760732.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001371563.4
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jul 08, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002008385.1
Submitted: (Nov 03, 2021)
Evidence details
Benign
(Oct 02, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918177.2
Submitted: (Apr 24, 2019)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR2 - - - -

Text-mined citations for rs201371633...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021