Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599304 | SCV000710272 | pathogenic | not provided | 2017-12-15 | criteria provided, single submitter | clinical testing | The c.1124_1128delCGAAA variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1124_1128delCGAAA variant causes a frameshift starting with codon Threonine 375, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Thr375IlefsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1124_1128delCGAAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1124_1128delCGAAA as a pathogenic variant. |