Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |