Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523532 | SCV000620435 | pathogenic | not provided | 2017-08-22 | criteria provided, single submitter | clinical testing | The c.6249delC variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6249delC variant causes a frameshift starting with codon Alanine 2084, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ala2084ProfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6249delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret c.6249delC as a pathogenic variant. |