ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2364C>A (p.Cys788Ter)

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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 RCV002457717 SCV002735771 pathogenic Cardiovascular phenotype 2017-11-17 criteria provided, single submitter clinical testing The p.C788* variant (also known as c.2364C>A), located in coding exon 24 of the MYBPC3 gene, results from a C to A substitution at nucleotide position 2364. This changes the amino acid from a cysteine to a stop codon within coding exon 24. This alteration has been reported in one subject with hypertrophic cardiomyopathy (HCM) who also carried a missense alteration in MYH7 (Maron BJ et al. Heart Rhythm, 2012 Jan;9:57-63). 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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