Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009120 | SCV001168931 | pathogenic | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing | The c.5105dupG variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5105dupG variant causes a frameshift starting with codon Valine 1703, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Val1703ArgfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5105dupG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5105dupG as a pathogenic variant. |