Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685867 | SCV000813367 | uncertain significance | Fanconi anemia | 2019-09-21 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with tyrosine at codon 836 of the FANCA protein (p.Phe836Tyr). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is present in population databases (rs142869950, ExAC 0.02%). This variant has not been reported in the literature in individuals with FANCA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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. |