Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693984 | SCV000822408 | uncertain significance | Fanconi anemia | 2023-05-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs763337738, gnomAD 0.009%). 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: 572570). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 434 of the SLX4 protein (p.Pro434Leu). |
Fulgent Genetics, |
RCV002499243 | SCV002775980 | uncertain significance | Fanconi anemia complementation group P | 2022-04-29 | criteria provided, single submitter | clinical testing |