ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys)

gnomAD frequency: 0.00002  dbSNP: rs781847641
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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 RCV001366870 SCV001563188 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 956 of the RBP3 protein (p.Glu956Lys). This variant is present in population databases (rs781847641, gnomAD 0.008%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 19074801). ClinVar contains an entry for this variant (Variation ID: 208322). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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) RCV000206922 SCV000244073 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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