ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys)

gnomAD frequency: 0.00010  dbSNP: rs143632019
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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 RCV001341968 SCV001535865 uncertain significance not provided 2023-05-23 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. 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. ClinVar contains an entry for this variant (Variation ID: 208308). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 19074801). This variant is present in population databases (rs143632019, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 535 of the RBP3 protein (p.Arg535Cys).
Dept Of Ophthalmology, Nagoya University RCV003888640 SCV004706861 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206916 SCV000244056 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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