Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000475264 | SCV000547440 | uncertain significance | Fanconi anemia | 2023-05-26 | criteria provided, single submitter | clinical testing | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 407901). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs368434737, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1366 of the SLX4 protein (p.Arg1366Cys). |
New York Genome Center | RCV002265770 | SCV002548927 | uncertain significance | Fanconi anemia complementation group P | 2021-10-07 | criteria provided, single submitter | clinical testing |