ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.458C>T (p.Thr153Ile)

gnomAD frequency: 0.00006  dbSNP: rs769299818
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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 RCV001318520 SCV001509226 uncertain significance Candidiasis, familial, 6 2022-07-06 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1019128). This variant has not been reported in the literature in individuals affected with IL17F-related conditions. This variant is present in population databases (rs769299818, gnomAD 0.05%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 153 of the IL17F protein (p.Thr153Ile).

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