ClinVar

Description

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. This variant disrupts the p.Arg102 amino acid residue in SLC45A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29345414; 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. ClinVar contains an entry for this variant (Variation ID: 1443630). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 102 of the SLC45A2 protein (p.Arg102Gln). This variant is present in population databases (rs752370234, gnomAD 0.009%). This missense change has been observed in individual(s) with ocular albinism (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.