ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)

gnomAD frequency: 0.00861  dbSNP: rs3729823
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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel RCV000758034 SCV000564464 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4472C>G (p.Ser1491Cys) variant in the MYH7 gene is 0.98% (698/66740) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172762 SCV000051574 benign Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035914 SCV000059565 benign not specified 2016-01-07 criteria provided, single submitter clinical testing p.Ser1491Cys in exon 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (698/66740) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs3729823).
Eurofins Ntd Llc (ga) RCV000035914 SCV000110307 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035914 SCV000151922 benign not specified 2014-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000035914 SCV000170536 benign not specified 2012-04-17 criteria provided, single submitter clinical testing 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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203136 SCV000257659 benign Hypertrophic cardiomyopathy 1 2015-04-12 criteria provided, single submitter clinical testing
Invitae RCV000172762 SCV000262237 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000035914 SCV000303239 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254102 SCV000317769 benign Cardiovascular phenotype 2015-07-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000331016 SCV000385954 likely benign Dilated cardiomyopathy 1S 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000203136 SCV000385955 likely benign Hypertrophic cardiomyopathy 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000712360 SCV000604364 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712360 SCV000842834 benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000758034 SCV000902639 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852699 SCV000995413 benign Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 2018-11-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000035914 SCV001433060 likely benign not specified 2019-07-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712360 SCV002545162 benign not provided 2024-07-01 criteria provided, single submitter clinical testing MYH7: BS1, BS2
Cohesion Phenomics RCV000172762 SCV003803030 benign Hypertrophic cardiomyopathy 2022-10-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000035914 SCV001742479 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712360 SCV001798027 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000035914 SCV001918462 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000035914 SCV001931851 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000035914 SCV001956184 benign not specified no assertion criteria provided clinical testing

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