ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.946G>A (p.Gly316Arg)

gnomAD frequency: 0.00007  dbSNP: rs370841672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204237 SCV001375436 uncertain significance Inflammatory bowel disease 25 2022-05-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 316 of the IL10RB protein (p.Gly316Arg). This variant is present in population databases (rs370841672, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. ClinVar contains an entry for this variant (Variation ID: 935606). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509077 SCV001715592 uncertain significance not provided 2021-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986939 SCV005600861 likely benign Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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