Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519306 | SCV000621838 | pathogenic | not provided | 2017-10-17 | criteria provided, single submitter | clinical testing | The c.3096delC variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3096delC variant causes a frameshift starting with codon Serine 1033, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 285 of the new reading frame, denoted p.Ser1033ValfsX285. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3096delC variant is not observed in large population cohorts (Lek et al., 2016). |