ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1138T>G (p.Ser380Ala)

gnomAD frequency: 0.00001  dbSNP: rs201355398
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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 RCV001900937 SCV002158477 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing 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 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"). ClinVar contains an entry for this variant (Variation ID: 1394575). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. This variant is present in population databases (rs201355398, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 380 of the RBP3 protein (p.Ser380Ala).
Dept Of Ophthalmology, Nagoya University RCV003888387 SCV004706876 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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