ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.361G>A (p.Val121Ile)

gnomAD frequency: 0.00001  dbSNP: rs550486674
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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 RCV001344765 SCV001538842 uncertain significance Candidiasis, familial, 6 2023-03-17 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. 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. ClinVar contains an entry for this variant (Variation ID: 1041022). This variant has not been reported in the literature in individuals affected with IL17F-related conditions. This variant is present in population databases (rs550486674, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 121 of the IL17F protein (p.Val121Ile).

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