ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1813C>G (p.Pro605Ala)

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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 RCV003752845 SCV004481283 uncertain significance Candidiasis, familial, 9 2023-05-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs758853893, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 676 of the IL17RC protein (p.Pro676Ala). 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. 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 disruptive.

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