Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001277348 | SCV002142694 | uncertain significance | Schimke immuno-osseous dysplasia | 2021-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 592 of the SMARCAL1 protein (p.Thr592Met). This variant is present in population databases (rs199876834, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 989501). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV001277348 | SCV002792966 | uncertain significance | Schimke immuno-osseous dysplasia | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277348 | SCV001464292 | uncertain significance | Schimke immuno-osseous dysplasia | 2020-09-04 | no assertion criteria provided | clinical testing |