Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802181 | SCV000941999 | uncertain significance | Fanconi anemia | 2022-09-21 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 534 of the FANCD2 protein (p.Tyr534Cys). This variant is present in population databases (rs143701205, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 647630). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCD2 protein function. 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. |
Baylor Genetics | RCV001332745 | SCV001525152 | uncertain significance | Fanconi anemia complementation group D2 | 2019-04-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genetic Services Laboratory, |
RCV001816863 | SCV002071988 | uncertain significance | not specified | 2021-11-17 | criteria provided, single submitter | clinical testing |