ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2965dup (p.Glu989fs)

dbSNP: rs1595842017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008274 SCV001168040 likely pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing Although the c.2965dupG likely pathogenic variant in the MYBPC3 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon glutamic acid 989, changing it to a glycine, and creating a premature stop codon at position 62 of the new reading frame, denoted p.Glu989GlyfsX62. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the MYBPC3 gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.2965dupG variant has not been observed in large population cohorts (Lek et al., 2016). In summary, c.2965dupG in the MYBPC3 gene is interpreted as a likely pathogenic variant.

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