ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4536G>A (p.Ser1512=) (rs142539180)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621711 SCV000736238 likely benign Cardiovascular phenotype 2015-11-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000037510 SCV000732648 likely benign not specified 2018-01-03 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.
Invitae RCV000477185 SCV000557873 benign Familial hypertrophic cardiomyopathy 14 2017-09-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037510 SCV000061168 likely benign not specified 2012-01-05 criteria provided, single submitter clinical testing Ser1512Ser in exon 32 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. This variant has been identified in 1/7020 Eu ropean American chromosomes and 1/3734 African American chromosomes in clinicall y unspecified cohorts (http://evs.gs.washington.edu/EVS; dbSNP rs142539180). Se r1512Ser in exon 32 of MYH6 (rs142539180, NHBLI Exome Seq Project; 1/7020)

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