Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001363161 | SCV001559261 | uncertain significance | Fanconi anemia | 2020-10-09 | 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 1654 of the SLX4 protein (p.His1654Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. |
Fulgent Genetics, |
RCV002476654 | SCV002786540 | uncertain significance | Fanconi anemia complementation group P | 2022-01-28 | criteria provided, single submitter | clinical testing |