ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.953C>T (p.Pro318Leu)

gnomAD frequency: 0.00014  dbSNP: rs141414815
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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 RCV001035851 SCV001199190 uncertain significance Inflammatory bowel disease 25 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 318 of the IL10RB protein (p.Pro318Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs141414815, ExAC 0.08%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480909 SCV004225537 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing BP4
Ambry Genetics RCV004986736 SCV005600862 likely benign Inborn genetic diseases 2024-10-20 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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