ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.12G>C (p.Lys4Asn)

dbSNP: rs2128268858
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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 RCV001955134 SCV002211905 uncertain significance Candidiasis, familial, 6 2021-08-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 4 of the IL17F protein (p.Lys4Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant has not been reported in the literature in individuals affected with IL17F-related conditions. 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.

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