ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.2063C>T (p.Ala688Val)

gnomAD frequency: 0.00008  dbSNP: rs200168559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001103700 SCV001260492 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV001172034 SCV001334963 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001172034 SCV001493924 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 688 of the RBP3 protein (p.Ala688Val). This variant is present in population databases (rs200168559, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of an RBP3-related condition (PMID: 19074801). ClinVar contains an entry for this variant (Variation ID: 208313). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206971 SCV000244063 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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