ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.728A>C (p.Gln243Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003754615 SCV004504553 uncertain significance Candidiasis, familial, 9 2022-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 314 of the IL17RC protein (p.Gln314Pro). This variant is present in population databases (rs200210312, gnomAD 0.0009%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with IL17RC-related conditions.
Ambry Genetics RCV004371793 SCV004885338 uncertain significance not specified 2023-12-30 criteria provided, single submitter clinical testing The c.941A>C (p.Q314P) alteration is located in exon 8 (coding exon 8) of the IL17RC gene. This alteration results from a A to C substitution at nucleotide position 941, causing the glutamine (Q) at amino acid position 314 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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