Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001952044 | SCV002189610 | uncertain significance | Fanconi anemia | 2023-07-03 | 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 (no rsID available, gnomAD 0.0008%). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 366 of the SLX4 protein (p.Leu366Gln). ClinVar contains an entry for this variant (Variation ID: 1418294). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. |