ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs)

dbSNP: rs1555120927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484334 SCV000566041 pathogenic not provided 2020-01-16 criteria provided, single submitter clinical testing Has been reported as Leu901fs (due to alternative nomenclature) in association with HCM (Harris et al., 2011), and in association with DCM (Zimmerman et al., 2010); Frameshift 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: 21415409, 20474083)
Ambry Genetics RCV002431392 SCV002741729 pathogenic Cardiovascular phenotype 2019-10-15 criteria provided, single submitter clinical testing The c.2700_2703dupCCTG pathogenic mutation, located in coding exon 26 of the MYBPC3 gene, results from a duplication of CCTG at nucleotide position 2700, causing a translational frameshift with a predicted alternate stop codon (p.D902Pfs*150). This variant has been reported (as Leu901fs) in association with hypertrophic cardiomyopathy, although clinical details were limited (Harris SP et al. Circ. Res., 2011 Mar;108:751-64). 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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