ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1862T>C (p.Leu621Ser)

gnomAD frequency: 0.00021  dbSNP: rs201296441
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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 RCV000791663 SCV000930922 uncertain significance Candidiasis, familial, 9 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 692 of the IL17RC protein (p.Leu692Ser). This variant is present in population databases (rs201296441, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 638978). 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. 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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