ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile)

dbSNP: rs864622002
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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 RCV001351898 SCV001546403 uncertain significance not provided 2020-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1059 of the RBP3 protein (p.Val1059Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 19074801). ClinVar contains an entry for this variant (Variation ID: 208324). This variant is not present in population databases (ExAC no frequency).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206919 SCV000244076 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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