Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386133 | SCV001586259 | pathogenic | Schimke immuno-osseous dysplasia | 2023-06-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1073209). For these reasons, this variant has been classified as Pathogenic. This variant is also known as L397fsX40. This premature translational stop signal has been observed in individual(s) with Schimke immunoosseous dysplasia (PMID: 11799392). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr399Argfs*38) 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). |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252678 | SCV002523613 | pathogenic | See cases | 2020-03-27 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PM2 |
Natera, |
RCV001386133 | SCV002076299 | pathogenic | Schimke immuno-osseous dysplasia | 2020-08-18 | no assertion criteria provided | clinical testing |