ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) (rs190228518)

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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 RCV000201869 SCV000256642 pathogenic Familial hypertrophic cardiomyopathy 1 2015-03-06 criteria provided, single submitter research The MYBPC3 Tyr434* variant has been previously reported by Captur et al (2014) in one HCM proband. It is absent from the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). We have identified this variant in 1 HCM proband of Cyprian descent (IVS 24mm; PW 18mm). This variant is predicted to lead to a premature stop codon and result in a trauncated or absent protein. Loss-of-function mutations in the MYBPC3 gene are an established mechanism of disease in HCM. Hence, we classify MYBPC3 Tyr434* as "pathogenic".

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