ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)

gnomAD frequency: 0.00008  dbSNP: rs778319108
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Total submissions: 3
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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 RCV000213817 SCV000272015 uncertain significance not specified 2015-12-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser385Leu var iant in MYH6 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.2% (19/8650) of East Asian chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7783191 08). Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, while the clini cal significance of the p.Ser385Leu variant is uncertain, its frequency suggests that it is more likely to be benign.
Ambry Genetics RCV000620614 SCV000736240 likely benign Cardiovascular phenotype 2021-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000868102 SCV001009398 likely benign Hypertrophic cardiomyopathy 14 2024-01-17 criteria provided, single submitter clinical testing

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