ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) (rs730880672)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158400 SCV000208335 pathogenic not provided 2016-11-04 criteria provided, single submitter clinical testing Although the c.3321dupG pathogenic variant in the MYBPC3 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Lysine 1108, changing it to a Glutamic acid, and creating a premature stop codon at position 41 of the new reading frame, denoted p.Lys1108GlufsX41. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the MYBPC3 gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the c.3321dupG variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.3321dupG in the MYBPC3 gene is interpreted as a pathogenic variant.
Center for Human Genetics,University of Leuven RCV000768479 SCV000886770 pathogenic Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing

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