ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.611C>T (p.Pro204Leu)

dbSNP: rs369736579
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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 RCV001231782 SCV001404314 uncertain significance Candidiasis, familial, 9 2022-08-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 958588). 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 tolerated. This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs369736579, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 275 of the IL17RC protein (p.Pro275Leu).

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