Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001768423 | SCV002009058 | uncertain significance | not provided | 2020-04-09 | criteria provided, single submitter | clinical testing | Observed in two individuals with albinism in the presence of a second SLC45A2 variant in published literature (Lasseaux et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28976636, 29345414) |
| Labcorp Genetics |
RCV001768423 | SCV003460755 | pathogenic | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 102 of the SLC45A2 protein (p.Arg102Trp). This variant is present in population databases (rs760331451, gnomAD 0.01%). This missense change has been observed in individuals with oculocutaneous albinism (PMID: 29345414; Invitae). ClinVar contains an entry for this variant (Variation ID: 1318799). 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 SLC45A2 protein function with a positive predictive value of 80%. This variant disrupts the p.Arg102 amino acid residue in SLC45A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |