Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002240261 | SCV001220497 | pathogenic | Chondrodysplasia punctata, brachytelephalangic, autosomal | 2019-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile387Serfs*18) in the ARSE gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ARSE are known to be pathogenic (PMID: 9497243, 23470839). This variant has not been reported in the literature in individuals with ARSE-related conditions. This variant is not present in population databases (ExAC no frequency). |