ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) (rs397515970)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035500 SCV000059150 pathogenic Hypertrophic cardiomyopathy 2011-05-26 criteria provided, single submitter clinical testing The Tyr842fs variant has not been reported in the literature nor been previously detected in over 1,600 Caucasian probands tested by our laboratory. This varia nt meets our criteria for pathogenicity (http://pcpgm.partners.org/LMM) based on the following data. This individual?s racial background is reported to be Cauca sian and the low frequency of this variant in this population supports a pathoge nic role. In addition, the variant is predicted to cause a frameshift, which al ters the protein's amino acid sequence beginning at codon 842 and leads to a pre mature stop codon 42 amino acids downstream. This alteration is then predicted t o lead to a truncated or absent protein (loss of function). Loss of function of the MYBPC3 gene is an established disease mechanism for HCM, which strongly supp orts a pathogenic role of the Tyr842fs variant.
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201921 SCV000256647 pathogenic Familial hypertrophic cardiomyopathy 1 2015-05-30 criteria provided, single submitter research The MYBPC3 Tyr842fs variant is absent from the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). We have identified this variant in 1 HCM proband (IVS 24mm). This MYBPC3 insertion variant (c.2525dupT) is predicted to interrupt the reading frame and lead to a premature stop codon, and a truncated or absent protein. Loss-of-function mutations in the MYBPC3 gene are an established mechanism of disease in HCM hence, we classify MYBPC3 Tyr842fs as "pathogenic".

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