Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548806 | SCV000626226 | uncertain significance | Fanconi anemia | 2017-07-27 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with tyrosine at codon 322 of the FANCA protein (p.His322Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs772768595, ExAC 0.04%). 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: "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. |
Counsyl | RCV000674060 | SCV000799333 | uncertain significance | Fanconi anemia, complementation group A | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274161 | SCV001457965 | uncertain significance | Fanconi anemia, group A | 2020-09-16 | no assertion criteria provided | clinical testing |