ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.539G>A (p.Arg180Lys)

dbSNP: rs1159674026
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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 RCV001066801 SCV001231821 uncertain significance Candidiasis, familial, 9 2023-05-01 criteria provided, single submitter clinical testing 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: 860489). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 251 of the IL17RC protein (p.Arg251Lys). 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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