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NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Dec 30, 2020)
Last evaluated:
Feb 19, 2020
Accession:
VCV000178191.8
Variation ID:
178191
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)

Allele ID
172955
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178573545 (GRCh38) GRCh38 UCSC
2: 179438272 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179438272C>T
NC_000002.12:g.178573545C>T
NM_001267550.2:c.72587G>A MANE Select NP_001254479.2:p.Arg24196His missense
... more HGVS
Protein change
R21628H, R24196H, R22555H, R15131H, R15323H, R15256H
Other names
p.R22555H:CGT>CAT
Canonical SPDI
NC_000002.12:178573544:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00073
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00041
The Genome Aggregation Database (gnomAD), exomes 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00099
Exome Aggregation Consortium (ExAC) 0.00023
Links
ClinGen: CA181723
dbSNP: rs200317412
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Feb 19, 2020 RCV000154921.6
Likely benign 1 criteria provided, single submitter Dec 4, 2019 RCV000621332.2
Uncertain significance 1 criteria provided, single submitter May 23, 2018 RCV000727739.3
Benign 1 criteria provided, single submitter Oct 30, 2017 RCV000769954.1
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV001082619.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
7416 17422
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237514.7
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(May 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855113.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 30, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901380.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(Sep 12, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204603.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg21628His in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (12/3854) of … (more)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555026.5
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Dec 04, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737211.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Insufficient evidence
Benign
(Feb 19, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476372.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (2)

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
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Pugh TJ Genetics in medicine : official journal of the American College of Medical Genetics 2014 PMID: 24503780
Interpreting secondary cardiac disease variants in an exome cohort. Ng D Circulation. Cardiovascular genetics 2013 PMID: 23861362
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs200317412...

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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 Jul 07, 2021