ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.509G>A (p.Arg170Gln)

gnomAD frequency: 0.00004  dbSNP: rs782671340
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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 RCV002032542 SCV002158174 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". 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: 1184596). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. This variant is present in population databases (rs782671340, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 170 of the RBP3 protein (p.Arg170Gln).
Genomics England Pilot Project, Genomics England RCV001542765 SCV001760251 likely pathogenic Retinitis pigmentosa 66 no assertion criteria provided clinical testing

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