ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2163del (p.Glu722fs)

dbSNP: rs397515952
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Total submissions: 1
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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 RCV000211802 SCV000059118 pathogenic Hypertrophic cardiomyopathy 2012-01-24 criteria provided, single submitter clinical testing The Glu722fs variant (MYBPC3) is predicted to cause a frameshift, which alters t he protein's amino acid sequence beginning at codon 722 and leads to a premature stop codon 32 amino acids downstream. This alteration is then predicted to lea d to a truncated or absent protein. Loss of function is an established mechanis m of disease for the MYBPC3 gene in HCM, which makes it highly likely that the G lu722fs variant is pathogenic.

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