Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001214743 | SCV001386444 | uncertain significance | Candidiasis, familial, 9 | 2023-11-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 578 of the IL17RC protein (p.Gly578Arg). This variant is present in population databases (rs763525201, gnomAD 0.02%). 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: 944363). 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. 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. |
Ambry Genetics | RCV004033941 | SCV003965849 | uncertain significance | not specified | 2023-03-28 | criteria provided, single submitter | clinical testing | The c.1732G>C (p.G578R) alteration is located in exon 18 (coding exon 18) of the IL17RC gene. This alteration results from a G to C substitution at nucleotide position 1732, causing the glycine (G) at amino acid position 578 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |