Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001870492 | SCV002131290 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 586 of the SMARCAL1 protein (p.Arg586Gln). This variant is present in population databases (rs766857853, gnomAD 0.04%). 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: 1369159). 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 C0"). 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, |
RCV001870492 | SCV002776506 | uncertain significance | Schimke immuno-osseous dysplasia | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001870492 | SCV003823974 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-01-22 | criteria provided, single submitter | clinical testing |