ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.857C>T (p.Ser286Leu)

dbSNP: rs771890796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361074 SCV001557035 uncertain significance Inflammatory bowel disease 25 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 286 of the IL10RB protein (p.Ser286Leu). This variant is present in population databases (rs771890796, gnomAD 0.007%). 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: 1052817). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692630 SCV005195111 uncertain significance not provided criteria provided, single submitter not provided

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