Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598748 | SCV000710299 | pathogenic | not provided | 2018-01-05 | criteria provided, single submitter | clinical testing | The c.488_501del14 variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.488_501del14 variant causes a frameshift starting with codon Lysine 163, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 43 of the new reading frame, denoted p.Lys163ArgfsX43. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.488_501del14 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.488_501del14 as a pathogenic variant. |