ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.274C>T (p.Arg92Trp)

gnomAD frequency: 0.00010  dbSNP: rs142962486
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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 RCV002016005 SCV002295601 uncertain significance Candidiasis, familial, 6 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 92 of the IL17F protein (p.Arg92Trp). This variant is present in population databases (rs142962486, gnomAD 0.04%). This missense change has been observed in individual(s) with primary immunodeficiency (PMID: 30290665). ClinVar contains an entry for this variant (Variation ID: 1500904). 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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