Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205978 | SCV001377262 | pathogenic | Schimke immuno-osseous dysplasia | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro502Hisfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SMARCAL1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 937038). For these reasons, this variant has been classified as Pathogenic. |