ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.115G>A (p.Val39Met)

gnomAD frequency: 0.00012  dbSNP: rs142850511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172038 SCV000054821 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000765155 SCV000896384 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089357 SCV001002472 likely benign Hypertrophic cardiomyopathy 14 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000172038 SCV001788593 likely benign not provided 2020-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221, 23861362)
Ambry Genetics RCV002354432 SCV002621017 likely benign Cardiovascular phenotype 2021-08-27 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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