ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.632C>T (p.Ser211Phe)

dbSNP: rs143645358
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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 RCV001216508 SCV001388309 uncertain significance Inflammatory bowel disease 28 2019-07-15 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in an individual affected with early onset inflammatory bowel disease (PMID: 28930861). This variant is present in population databases (rs143645358, ExAC 0.001%). This sequence change replaces serine with phenylalanine at codon 211 of the IL10RA protein (p.Ser211Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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