Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555668 | SCV000626427 | uncertain significance | Fanconi anemia | 2022-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1309 of the SLX4 protein (p.Ser1309Phe). This variant is present in population databases (rs556682517, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 30995915). ClinVar contains an entry for this variant (Variation ID: 456316). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002490950 | SCV002788853 | uncertain significance | Fanconi anemia complementation group P | 2022-04-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002490950 | SCV004202562 | uncertain significance | Fanconi anemia complementation group P | 2023-07-19 | criteria provided, single submitter | clinical testing |