ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2058del (p.Ile687fs)

dbSNP: rs1064793642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482156 SCV000566673 pathogenic not provided 2015-05-20 criteria provided, single submitter clinical testing Although the c.2058delT variant in the MYBPC3 gene has not been reported to our knowledge, this deletioncauses a shift in reading frame starting at codon Isoleucine 687, changing it to a Serine, and creating apremature stop codon at position 67 of the new reading frame, denoted p.Ile687SerfsX67. This deletion isexpected to result in either an abnormal, truncated protein product or loss of protein from this allele throughnonsense-mediated mRNA decay. Other frameshift variants in the MYBPC3 gene have been reported inHGMD in association with cardiomyopathy (Stenson P et al., 2014). Furthermore, the c.2058delT deletion was not observed in approximately 6,200 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.2058delT in the MYBPC3 gene is interpreted as a pathogenic variant.

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