ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) (rs886037900)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000240631 SCV000299249 likely pathogenic Familial hypertrophic cardiomyopathy 4 2016-01-01 criteria provided, single submitter clinical testing This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
GeneDx RCV000481588 SCV000570065 pathogenic not provided 2018-11-09 criteria provided, single submitter clinical testing Although the c.1404delG likely pathogenic variant in the MYBPC3 gene has not been reported to ourknowledge, this variant causes a shift in reading frame starting at codon Glutamine 469, changing it toa Serine, and creating a premature stop codon at position 19 of the new reading frame, denotedp.Gln469SerfsX19. This variant is expected to result in either an abnormal, truncated protein productor loss of protein from this allele through nonsense-mediated mRNA decay. Multiple downstreamframeshift variants in the MYBPC3 gene have been reported in HGMD in association withcardiomyopathy (Stenson et al., 2014). Furthermore, the c.1404delG variant was not observed inapproximately 6,200 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.While the c.1404delG variant has not been published, it is expected to be pathogenic, as loss offunction variants in this gene are strongly associated with this phenotype.
Center for Human Genetics,University of Leuven RCV000768470 SCV000886755 pathogenic Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing

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