Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062876 | SCV001227700 | pathogenic | Schimke immuno-osseous dysplasia | 2019-12-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys263*) in the SMARCAL1 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 SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). This variant has not been reported in the literature in individuals with SMARCAL1-related conditions. This variant is not present in population databases (ExAC no frequency). |