ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)

gnomAD frequency: 0.00018  dbSNP: rs142539180
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Total submissions: 7
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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 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)
Invitae RCV000477185 SCV000557873 benign Hypertrophic cardiomyopathy 14 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001533537 SCV000732648 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621711 SCV000736238 likely benign Cardiovascular phenotype 2015-11-17 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037510 SCV001363687 benign not specified 2019-07-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490510 SCV002804380 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001533537 SCV004129066 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7

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