Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001206161 | SCV001377457 | uncertain significance | Fanconi anemia | 2022-10-06 | criteria provided, single submitter | clinical testing | 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. 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 FANCB protein function. ClinVar contains an entry for this variant (Variation ID: 937196). This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is present in population databases (rs773313492, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 536 of the FANCB protein (p.Pro536Ser). |
Fulgent Genetics, |
RCV002491624 | SCV002800922 | uncertain significance | Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus | 2021-10-17 | criteria provided, single submitter | clinical testing |