ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.538T>G (p.Phe180Val)

gnomAD frequency: 0.00001  dbSNP: rs759799794
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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 RCV001369505 SCV001565947 uncertain significance Inflammatory bowel disease 28 2024-03-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 180 of the IL10RA protein (p.Phe180Val). This variant is present in population databases (rs759799794, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with IL10RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1060124). 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.

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