ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3710_3711CT[1] (p.Leu1238fs) (rs863225272)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201872 SCV000256659 pathogenic Familial hypertrophic cardiomyopathy 1 2015-06-04 criteria provided, single submitter research The deletion variant MYBPC3 c.3712_3713delCT is predicted to cause a frameshift at codon 1238 and lead to a premature stop codon 3 amino acids downstream (Leu1238Glyfs*3), and result in a truncated or absent protein. MYBPC3 Leu1238Glyfs*3 is absent in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) and has not previously been reported in the literature. We have identified this variant in 1 HCM case with asymmetric septal hypertrophy. Familial segregation analysis identified this variant to also be present his affected mother who was diagnosed with HCM (aged 61 years; LVH = 23mm). Based on the absence of the variant in the general population, and that loss-of-function mutations in the MYBPC3 gene are an established mechanism of disease in HCM, we classify MYBPC3 Tyr842fs as "pathogenic".

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