ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.352G>A (p.Gly118Arg)

dbSNP: rs2146700794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265367 SCV002547039 likely pathogenic not provided 2022-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 29345414)
Labcorp Genetics (formerly Invitae), Labcorp RCV002265367 SCV003462422 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with ocular albinism (PMID: 29345414). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Gly118 amino acid residue in GPR143. Other variant(s) that disrupt this residue have been observed in individuals with GPR143-related conditions (PMID: 9529334, 28339057, 29345414), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1695732). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 118 of the GPR143 protein (p.Gly118Arg).

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