ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.844G>A (p.Val282Met)

gnomAD frequency: 0.00006  dbSNP: rs782095820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060350 SCV001225031 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 282 of the RBP3 protein (p.Val282Met). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 208298). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. This variant is present in population databases (rs782095820, gnomAD 0.01%).
CeGaT Center for Human Genetics Tuebingen RCV001060350 SCV002497028 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206985 SCV000244043 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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