ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1669C>G (p.Gln557Glu)

gnomAD frequency: 0.00001  dbSNP: rs748278550
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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 RCV000796774 SCV000936301 uncertain significance Candidiasis, familial, 9 2022-02-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is present in population databases (rs748278550, gnomAD 0.001%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 628 of the IL17RC protein (p.Gln628Glu). ClinVar contains an entry for this variant (Variation ID: 643138). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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