ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter)

dbSNP: rs397515894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228088 SCV000284206 pathogenic Hypertrophic cardiomyopathy 2016-04-29 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 15 of the MYBPC3 mRNA (c.1236dupT), causing a frameshift at codon 413. This creates a premature translational stop signal (p.Glu413*) and is expected to result in an absent or disrupted protein product. Truncating variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This particular truncation has been reported in the literature in a patient with hypertrophic cardiomyopathy (PMID: 21817903). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002365175 SCV002662157 pathogenic Cardiovascular phenotype 2018-06-27 criteria provided, single submitter clinical testing The c.1236dupT variant, located in coding exon 15 of the MYBPC3 gene, results from a duplication of T at nucleotide position 1236, causing a translational frameshift with a predicted alternate stop codon (p.E413*). This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort (Bortot B et al. Diagn. Mol. Pathol., 2011 Sep;20:175-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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