ClinVar Miner

Submissions for variant NM_153460.4(IL17RC):c.1948G>C (p.Val650Leu)

gnomAD frequency: 0.00001  dbSNP: rs768568126
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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 RCV001241716 SCV001414754 uncertain significance Candidiasis, familial, 9 2022-04-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs768568126, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. ClinVar contains an entry for this variant (Variation ID: 966925). 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"). 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. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 721 of the IL17RC protein (p.Val721Leu).
Ambry Genetics RCV004619581 SCV005122929 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing The c.2161G>C (p.V721L) alteration is located in exon 19 (coding exon 19) of the IL17RC gene. This alteration results from a G to C substitution at nucleotide position 2161, causing the valine (V) at amino acid position 721 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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