ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3491-1G>A

dbSNP: rs2495738246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002459023 SCV002615784 pathogenic Cardiovascular phenotype 2019-02-15 criteria provided, single submitter clinical testing The c.3491-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 32 of the MYBPC3 gene. This mutation was reported in an individual with hypertrophic cardiomyopathy (HCM) (Zou Y et al. Mol. Biol. Rep., 2013 Jun;40:3969-76). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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