ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)

dbSNP: rs62635045
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Total submissions: 3
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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, University of Cambridge RCV000504645 SCV000599135 likely pathogenic Albinism 2015-01-01 no assertion criteria provided research

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