ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC (p.Lys218delinsSerTrpTer)

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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 RCV002364316 SCV002661252 pathogenic Cardiovascular phenotype 2021-11-10 criteria provided, single submitter clinical testing The c.653delAins11 variant, located in coding exon 5 of the MYBPC3 gene, results from the deletion of one nucleotide and insertion of 11 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.K218Sfs*3). 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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