ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.863A>T (p.Glu288Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003015998 SCV003312757 uncertain significance Inflammatory bowel disease 25 2022-02-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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"). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 288 of the IL10RB protein (p.Glu288Val).

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