Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248673 | SCV001422178 | uncertain significance | Fanconi anemia | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with arginine at codon 1072 of the FANCA protein (p.Gln1072Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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"). 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. |
Prevention |
RCV003898244 | SCV004717561 | uncertain significance | FANCA-related condition | 2023-10-26 | criteria provided, single submitter | clinical testing | The FANCA c.3215A>G variant is predicted to result in the amino acid substitution p.Gln1072Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001248673 | SCV002092546 | uncertain significance | Fanconi anemia | 2020-01-17 | no assertion criteria provided | clinical testing |