ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.973G>A (p.Ala325Thr)

gnomAD frequency: 0.00012  dbSNP: rs368898051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173292 SCV000224389 uncertain significance not provided 2014-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173292 SCV001559165 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 325 of the RBP3 protein (p.Ala325Thr). This variant is present in population databases (rs368898051, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 19074801). ClinVar contains an entry for this variant (Variation ID: 193244). 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) RCV000206931 SCV000244045 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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