ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter)

dbSNP: rs730880533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158071 SCV000208006 pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing The K418X mutation in the MYBPC3 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. K418X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the MYBPC3 gene have been reported in association with HCM. In summary, K418X in the MYBPC3 gene is interpreted as a pathogenic variant. The variant is found in HCM panel(s).

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