Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001895657 | SCV002153677 | uncertain significance | not provided | 2021-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with histidine at codon 47 of the ABRAXAS1 protein (p.Asp47His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ABRAXAS1-related conditions. This variant is present in population databases (rs764540685, ExAC 0.01%). |
| Ambry Genetics | RCV004041311 | SCV002754805 | uncertain significance | not specified | 2024-07-19 | criteria provided, single submitter | clinical testing | The p.D47H variant (also known as c.139G>C), located in coding exon 2 of the FAM175A gene, results from a G to C substitution at nucleotide position 139. The aspartic acid at codon 47 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |