ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter)

dbSNP: rs1057517920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413236 SCV000491071 pathogenic not provided 2020-09-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27532257)
Ambry Genetics RCV003372699 SCV004096193 pathogenic Cardiovascular phenotype 2024-06-20 criteria provided, single submitter clinical testing The p.W486* pathogenic mutation (also known as c.1458G>A), located in coding exon 17 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 1458. This changes the amino acid from a tryptophan to a stop codon within coding exon 17. This alteration has been reported in individuals with hypertrophic cardiomyopathy (HCM) (Agarwal A et al. Glob Heart, 2015 Sep;10:209-19; Walsh R et al. Genet Med, 2017 Feb;19:192-203; Guo L et al. JAMA Cardiol, 2021 Sep;6:1013-1022). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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