Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001359995 | SCV001555886 | uncertain significance | Fanconi anemia | 2022-04-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1590 of the SLX4 protein (p.Gln1590Glu). This variant is present in population databases (rs148228302, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1051899). 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 disruptive. 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. |
Gene |
RCV001776219 | SCV002013338 | uncertain significance | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian cancer (Song 2021); This variant is associated with the following publications: (PMID: 32546565) |
Fulgent Genetics, |
RCV002486505 | SCV002792906 | uncertain significance | Fanconi anemia complementation group P | 2021-07-16 | criteria provided, single submitter | clinical testing |