Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000822767 | SCV000963584 | uncertain significance | Immunodeficiency 51 | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 517 of the IL17RA protein (p.Phe517Leu). This variant is present in population databases (rs769646719, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IL17RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 664634). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IL17RA protein function. 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 | RCV004029113 | SCV003870212 | uncertain significance | not specified | 2023-03-06 | criteria provided, single submitter | clinical testing | The c.1551C>G (p.F517L) alteration is located in exon 13 (coding exon 13) of the IL17RA gene. This alteration results from a C to G substitution at nucleotide position 1551, causing the phenylalanine (F) at amino acid position 517 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |