ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.298T>G (p.Trp100Gly)

dbSNP: rs868604197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330006 SCV001521592 uncertain significance Inflammatory bowel disease 25 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001330006 SCV002201974 uncertain significance Inflammatory bowel disease 25 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 100 of the IL10RB protein (p.Trp100Gly). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with very early-onset inflammatory bowel disease (PMID: 24216686). ClinVar contains an entry for this variant (Variation ID: 1028849). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IL10RB protein function. 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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