Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003753485 | SCV004384250 | uncertain significance | Candidiasis, familial, 9 | 2023-02-22 | 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. This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 324 of the IL17RC protein (p.Asn324His). This variant is present in population databases (rs768507483, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. 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. |
Ambry Genetics | RCV004621842 | SCV005122936 | uncertain significance | not specified | 2024-04-23 | criteria provided, single submitter | clinical testing | The c.970A>C (p.N324H) 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 970, causing the asparagine (N) at amino acid position 324 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |