ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1088G>A (p.Gly363Asp)

gnomAD frequency: 0.00002  dbSNP: rs768287050
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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 RCV001321806 SCV001512653 uncertain significance Candidiasis, familial, 9 2023-09-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 434 of the IL17RC protein (p.Gly434Asp). This variant is present in population databases (rs768287050, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1021958). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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