ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.226_228del (p.Lys76del)

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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 RCV003753315 SCV004372072 uncertain significance Candidiasis, familial, 9 2023-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.439_441del, results in the deletion of 1 amino acid(s) of the IL17RC protein (p.Lys147del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with IL17RC-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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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