Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000687585 | SCV000815161 | uncertain significance | Fanconi anemia | 2022-05-15 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 487 of the FANCG protein (p.Thr487Pro). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 567486). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV004972854 | SCV005580658 | uncertain significance | Inborn genetic diseases | 2024-11-25 | criteria provided, single submitter | clinical testing | The p.T487P variant (also known as c.1459A>C), located in coding exon 11 of the FANCG gene, results from an A to C substitution at nucleotide position 1459. The threonine at codon 487 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
Fulgent Genetics, |
RCV005046925 | SCV005675462 | uncertain significance | Fanconi anemia complementation group G | 2024-02-03 | criteria provided, single submitter | clinical testing |