ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4245A>G (p.Ser1415=)

gnomAD frequency: 0.00006  dbSNP: rs779697115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469201 SCV000557912 benign Hypertrophic cardiomyopathy 14 2024-01-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603789 SCV000710917 benign not specified 2017-01-20 criteria provided, single submitter clinical testing p.Ser1415Ser in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.5% (63/11578) o f Latino chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148319461).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603789 SCV002570720 benign not specified 2022-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329113 SCV002632867 likely benign Cardiovascular phenotype 2018-11-05 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.

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