Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003863382 | SCV004666313 | uncertain significance | not provided | 2022-12-14 | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABRAXAS1 protein function. This variant has not been reported in the literature in individuals affected with ABRAXAS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 188 of the ABRAXAS1 protein (p.Ser188Pro). |
| Ambry Genetics | RCV004369533 | SCV005030651 | uncertain significance | not specified | 2024-02-26 | criteria provided, single submitter | clinical testing | The p.S188P variant (also known as c.562T>C), located in coding exon 6 of the FAM175A gene, results from a T to C substitution at nucleotide position 562. The serine at codon 188 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |