Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000822517 | SCV000963325 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 357 of the SMARCAL1 protein (p.Phe357Ile). This variant is present in population databases (rs369180164, gnomAD 0.03%). 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: 664419). 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: "Tolerated"; 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, |
RCV000822517 | SCV002777386 | uncertain significance | Schimke immuno-osseous dysplasia | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000822517 | SCV001464289 | uncertain significance | Schimke immuno-osseous dysplasia | 2020-08-03 | no assertion criteria provided | clinical testing |