ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.651G>A (p.Thr217=)

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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 RCV002572928 SCV002931488 uncertain significance Inflammatory bowel disease 25 2022-04-28 criteria provided, single submitter clinical testing This sequence change affects codon 217 of the IL10RB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IL10RB protein. This variant is present in population databases (rs772283309, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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