ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.122A>G (p.Glu41Gly)

gnomAD frequency: 0.00001  dbSNP: rs753650110
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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 RCV001940284 SCV002190961 uncertain significance Inflammatory bowel disease 25 2022-07-19 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1417875). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. This variant is present in population databases (rs753650110, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 41 of the IL10RB protein (p.Glu41Gly).

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