Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001364509 | SCV001560662 | uncertain significance | Generalized pustular psoriasis | 2020-08-25 | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with benign migratory glossitis (PMID: 27900482). This variant is present in population databases (rs752880718, ExAC 0.01%). This sequence change replaces arginine with glutamine at codon 10 of the IL36RN protein (p.Arg10Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant also falls at the last nucleotide of exon 2 of the IL36RN coding sequence, which is part of the consensus splice site for this exon. |
| Genome Diagnostics Laboratory, |
RCV002264281 | SCV002543482 | uncertain significance | Autoinflammatory syndrome | 2019-05-01 | criteria provided, single submitter | clinical testing |