ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.128-2A>C

dbSNP: rs2083236031
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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 RCV001227647 SCV001400013 uncertain significance Candidiasis, familial, 9 2021-06-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the IL17RC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IL17RC-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IL17RC 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.

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