Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000991373 | SCV001142767 | likely pathogenic | Schimke immuno-osseous dysplasia | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000991373 | SCV003028748 | pathogenic | Schimke immuno-osseous dysplasia | 2022-08-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro124Serfs*11) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). |