Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001175126 | SCV001335549 | likely pathogenic | not provided | 2019-12-02 | criteria provided, single submitter | clinical testing | Observed as a heterozygous variant in internal GeneDx whole exome sequencing data in association with bilateral brachydactyly. Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 292 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014). Not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q210X as a likely pathogenic variant |