ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.249C>A (p.Asn83Lys)

dbSNP: rs782215106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038993 SCV001202498 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 83 of the RBP3 protein (p.Asn83Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 26872967). ClinVar contains an entry for this variant (Variation ID: 224750). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000210317 SCV000259092 likely pathogenic Retinal dystrophy 2015-01-30 no assertion criteria provided clinical testing

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