ClinVar Miner

Submissions for variant NC_000003.11:g.(?_9971561)_(9971976_?)del

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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 RCV004582227 SCV005066350 uncertain significance Candidiasis, familial, 9 2023-08-04 criteria provided, single submitter clinical testing This variant results in the deletion of exon 14 and part of exon 13 (c.1349_1492-108del) of the IL17RC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IL17RC cause disease. This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. ClinVar contains an entry for this variant (Variation ID: 951575). 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.

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