Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522711 | SCV000619942 | pathogenic | not provided | 2017-08-03 | criteria provided, single submitter | clinical testing | The c.6138delC variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6138delC variant causes a frameshift starting with codon Alanine 2047, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Ala2047ProfsX40. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6138delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.6138delC as a pathogenic variant |