ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.140G>T (p.Cys47Phe)

gnomAD frequency: 0.00001  dbSNP: rs760922852
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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 RCV000800724 SCV000940454 uncertain significance Candidiasis, familial, 6 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 646441). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 47 of the IL17F protein (p.Cys47Phe). This variant is present in population databases (rs760922852, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with IL17F-related conditions. 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. 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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