ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.121T>A (p.Phe41Ile)

gnomAD frequency: 0.00001  dbSNP: rs1764017239
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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 RCV001998998 SCV002269907 uncertain significance Candidiasis, familial, 6 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 1483880). This variant has not been reported in the literature in individuals affected with IL17F-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 41 of the IL17F protein (p.Phe41Ile).

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