ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.251G>A (p.Gly84Asp)

dbSNP: rs62635027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000084921 SCV002304853 pathogenic not provided 2024-08-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 84 of the GPR143 protein (p.Gly84Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with oculocutaneous albinism (PMID: 8634705, 12868035, 31574285; Invitae). ClinVar contains an entry for this variant (Variation ID: 98624). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects GPR143 function (PMID: 11115845). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084921 SCV000117057 not provided not provided no assertion provided not provided

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