ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1809del (p.Ile603fs)

dbSNP: rs1064794471
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479717 SCV000569254 likely pathogenic not provided 2016-02-01 criteria provided, single submitter clinical testing Although the c.1809delT likely pathogenic variant in the MYBPC3 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Isoleucine 603, changing it to a Methionine, and creating a premature stop codon at position 60 of the new reading frame, denoted p.Ile603MetfsX60. This likely 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 HCM (Stenson et al., 2014). Furthermore, the c.1809delT 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.

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