Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525450 | SCV000626187 | uncertain significance | Fanconi anemia | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1129 of the FANCA protein (p.Asp1129His). This variant is present in population databases (rs768851109, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of Fanconi Anemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 456114). 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: "Tolerated"; PolyPhen-2: "Possibly 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. |
Genetic Services Laboratory, |
RCV001821479 | SCV002066207 | uncertain significance | not specified | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476090 | SCV002797548 | uncertain significance | Fanconi anemia complementation group A | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000525450 | SCV002092531 | uncertain significance | Fanconi anemia | 2019-10-28 | no assertion criteria provided | clinical testing |