ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1174del (p.Ala392fs)

dbSNP: rs1565628486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689453 SCV000817104 pathogenic Hypertrophic cardiomyopathy 2022-07-25 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: 568945). This variant is also known as delG, A392fs. This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 18533079, 27600940). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala392Leufs*14) 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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