Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578970 | SCV000680986 | likely pathogenic | not provided | 2017-06-23 | criteria provided, single submitter | clinical testing | The K1992X variant in the ANKRD11 gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The K1992X variantis not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server). We interpret K1992X as a likely pathogenic variant |