ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.800G>A (p.Arg267Gln)

gnomAD frequency: 0.00001  dbSNP: rs200239015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243043 SCV001416175 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs200239015, gnomAD 0.01%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 208297). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 267 of the RBP3 protein (p.Arg267Gln).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206934 SCV000244042 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816318 SCV005069426 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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