Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001228182 | SCV001400568 | uncertain significance | Fanconi anemia | 2024-08-11 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 738 of the FANCA protein (p.Pro738Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 955526). 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 expected to disrupt FANCA protein function with a positive predictive value of 80%. 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 | RCV004978156 | SCV005583224 | uncertain significance | Inborn genetic diseases | 2024-11-24 | criteria provided, single submitter | clinical testing | The p.P738T variant (also known as c.2212C>A), located in coding exon 24 of the FANCA gene, results from a C to A substitution at nucleotide position 2212. The proline at codon 738 is replaced by threonine, 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, |
RCV005014269 | SCV005644503 | uncertain significance | Fanconi anemia complementation group A | 2024-03-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001228182 | SCV002092625 | uncertain significance | Fanconi anemia | 2020-12-15 | no assertion criteria provided | clinical testing |