Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222806 | SCV001394923 | uncertain significance | Fanconi anemia | 2022-06-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs759574554, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the SLX4 protein (p.Ala134Val). ClinVar contains an entry for this variant (Variation ID: 950980). 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. |
Genetic Services Laboratory, |
RCV001819921 | SCV002067165 | uncertain significance | not specified | 2018-06-12 | criteria provided, single submitter | clinical testing |