ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.106-108G>T

gnomAD frequency: 0.00006  dbSNP: rs752623690
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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 RCV001043433 SCV001207180 uncertain significance Candidiasis, familial, 9 2023-08-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 841250). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs752623690, gnomAD 0.04%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 97 of the IL17RC protein (p.Gly97Val). 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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