ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.324del (p.Ala109fs)

dbSNP: rs730880721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158485 SCV000208420 pathogenic not provided 2015-08-24 criteria provided, single submitter clinical testing The c.324delT mutation in the MYBPC3 gene has not been previously published as a disease-causing mutation or as a benign polymorphism to our knowledge. The c.324delT mutation was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This mutation is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay.
Invitae RCV003748194 SCV004502991 pathogenic Hypertrophic cardiomyopathy 2023-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 181157). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala109Profs*50) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547).

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