Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476740 | SCV000547749 | uncertain significance | Fanconi anemia | 2019-06-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 591 of the FANCA protein (p.Arg591Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs778093769, ExAC 0.2%). This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408177). 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. |
Fulgent Genetics, |
RCV000765329 | SCV000896590 | uncertain significance | Fanconi anemia, complementation group A | 2018-10-31 | criteria provided, single submitter | clinical testing |