Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210892 | SCV001382402 | pathogenic | Schimke immuno-osseous dysplasia | 2019-08-02 | criteria provided, single submitter | clinical testing | 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 been observed in an individual affected with Schimke immunoosseous dysplasia (PMID: 17089404). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg114Glnfs*4) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. |