ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.1336T>A (p.Tyr446Asn)

dbSNP: rs763134422
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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 RCV001298001 SCV001487041 uncertain significance Inflammatory bowel disease 28 2021-02-17 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. This sequence change replaces tyrosine with asparagine at codon 446 of the IL10RA protein (p.Tyr446Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is present in population databases (rs763134422, ExAC 0.009%). This variant has not been reported in the literature in individuals with IL10RA-related conditions. 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.

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