Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221657 | SCV001393716 | uncertain significance | Fanconi anemia | 2019-07-08 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with Fanconi Anemia (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 1089 of the FANCA protein (p.Val1089Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. |
Leiden Open Variation Database | RCV001256610 | SCV001426105 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV001221657 | SCV002092541 | uncertain significance | Fanconi anemia | 2021-01-25 | no assertion criteria provided | clinical testing |