Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000084948 | SCV004300090 | pathogenic | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 292 of the GPR143 protein (p.Trp292Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with GPR143-related conditions (PMID: 8634705, 28041643, 32581362). ClinVar contains an entry for this variant (Variation ID: 98647). 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 GPR143 protein function. Experimental studies have shown that this missense change affects GPR143 function (PMID: 11115845). This variant disrupts the p.Trp292 amino acid residue in GPR143. Other variant(s) that disrupt this residue have been observed in individuals with GPR143-related conditions (PMID: 11214907, 26785811), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000084948 | SCV000117084 | not provided | not provided | no assertion provided | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000504645 | SCV000599135 | likely pathogenic | Albinism | 2015-01-01 | no assertion criteria provided | research |