ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1717G>C (p.Glu573Gln)

gnomAD frequency: 0.00002  dbSNP: rs764647705
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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 RCV001316089 SCV001506692 uncertain significance Candidiasis, familial, 9 2023-07-31 criteria provided, single submitter clinical testing 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. 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: 1017004). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs764647705, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 644 of the IL17RC protein (p.Glu644Gln).

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