ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.700G>T (p.Gly234Cys)

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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 RCV002806258 SCV003032878 uncertain significance Candidiasis, familial, 9 2022-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 305 of the IL17RC protein (p.Gly305Cys). 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 (rs145374241, gnomAD 0.009%).

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