Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762093 | SCV000892349 | likely pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000800221 | SCV000939921 | uncertain significance | Candidiasis, familial, 9 | 2018-09-27 | 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. Experimental studies are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with IL17RC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the IL17RC gene (p.Pro630Alafs*136). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 162 amino acids of the IL17RC protein. |