ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser)

dbSNP: rs782469310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038992 SCV001202497 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 413 of the RBP3 protein (p.Pro413Ser). 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: 224751). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine 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 RCV000210290 SCV000259093 likely pathogenic Retinal dystrophy 2015-01-30 no assertion criteria provided clinical testing

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