ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4791C>T (p.Asp1597=)

gnomAD frequency: 0.00004  dbSNP: rs761627508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192374 SCV001360440 likely benign not specified 2019-04-12 criteria provided, single submitter clinical testing Variant summary: MYH6 c.4791C>T alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.7e-05 in 246268 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4791C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrences with other pathogenic variant(s) have been reported at our laboratory (SCN5A c.535C>T, p.Arg179*), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Ambry Genetics RCV002339486 SCV002639526 likely benign Cardiovascular phenotype 2022-08-03 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 RCV002560151 SCV003507141 likely benign Hypertrophic cardiomyopathy 14 2024-01-22 criteria provided, single submitter clinical testing

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