ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs)

dbSNP: rs863225107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201500 SCV000256173 likely pathogenic Hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
DASA RCV001836640 SCV002097310 pathogenic MYBPC3-Related Disorders 2022-02-14 criteria provided, single submitter clinical testing The c.3662del;p.(Leu1221Argfs*16) is a null frameshift variant in the MYBPC3 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 407321) - PS4_supporting. This variant is not present in population databases (rs863225107, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.
Invitae RCV001853228 SCV002173787 pathogenic Hypertrophic cardiomyopathy 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1221Argfs*16) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 24093860, 30297972). ClinVar contains an entry for this variant (Variation ID: 217479). For these reasons, this variant has been classified as Pathogenic.

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