Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008549 | SCV001168322 | pathogenic | not provided | 2019-01-25 | criteria provided, single submitter | clinical testing | The c.3306_3309delAAAA variant in the ANKRD11 gene has been not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3306_3309delAAAA variant causes a frameshift starting with codon Lysine 1103, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 214 of the new reading frame, denoted p.Lys1103MetfsX214. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3306_3309delAAAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3306_3309delAAAA as a pathogenic variant. |