ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1083G>T (p.Gly361=)

gnomAD frequency: 0.00092  dbSNP: rs138928022
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154768 SCV000204448 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.Gly361Gly in exon 12 of MYH6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (25/10404) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs138928022).
Ambry Genetics RCV000250037 SCV000319134 likely benign Cardiovascular phenotype 2017-12-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GeneDx RCV001533529 SCV000535042 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Invitae RCV000647082 SCV000768869 benign Hypertrophic cardiomyopathy 14 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001533529 SCV002049991 likely benign not provided 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154768 SCV002548236 benign not specified 2022-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544413 SCV004784647 likely benign MYH6-related disorder 2022-03-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV001533529 SCV001917952 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001533529 SCV001927937 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001533529 SCV001973821 likely benign not provided no assertion criteria provided clinical testing

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