ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.511C>A (p.Pro171Thr)

dbSNP: rs752902509
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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 RCV001349768 SCV001544128 uncertain significance Inflammatory bowel disease 25 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 171 of the IL10RB protein (p.Pro171Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. 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. 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.

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