ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.97del (p.Ile33fs)

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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 RCV003527151 SCV004290537 uncertain significance Candidiasis, familial, 6 2023-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile33Serfs*4) in the IL17F gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IL17F cause disease. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with IL17F-related conditions. This variant is not present in population databases (gnomAD no frequency).

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