Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223239 | SCV001395378 | uncertain significance | Fanconi anemia | 2022-03-29 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs756369289, gnomAD 0.009%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 951347). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 525 of the SLX4 protein (p.Arg525His). |
Fulgent Genetics, |
RCV002504285 | SCV002816397 | uncertain significance | Fanconi anemia complementation group P | 2021-10-11 | criteria provided, single submitter | clinical testing |