Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497749 | SCV000590402 | pathogenic | not provided | 2017-06-08 | criteria provided, single submitter | clinical testing | The c.1970_1971delTT variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1970_1971delTT variant causes a frameshift starting with codon Phenylalanine 657, changes this amino acid to a Tyrosine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Phe657TyrfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1970_1971delTT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1970_1971delTT as a pathogenic variant. |