ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1686del (p.Ser563fs)

dbSNP: rs1597463562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008467 SCV001168238 pathogenic not provided 2018-12-17 criteria provided, single submitter clinical testing The c.1686delC variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1686delC variant causes a frameshift starting with codon Serine 563, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ser563ValfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1686delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1686delC as a pathogenic variant.

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