ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1538G>T (p.Arg513Leu)

gnomAD frequency: 0.00004  dbSNP: rs755109180
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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 RCV001879300 SCV002139498 uncertain significance Candidiasis, familial, 9 2023-07-10 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. 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. ClinVar contains an entry for this variant (Variation ID: 1374727). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs755109180, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 584 of the IL17RC protein (p.Arg584Leu).

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