Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000522253 | SCV000619441 | uncertain significance | not provided | 2017-07-24 | criteria provided, single submitter | clinical testing | The R206C variant in the NLRP12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R206C variant is observed in 8/66560 (0.01%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R206C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R206C as a variant of uncertain significance. |
| Illumina Laboratory Services, |
RCV001135677 | SCV001295468 | likely benign | Familial cold autoinflammatory syndrome 2 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Invitae | RCV001135677 | SCV001607576 | likely benign | Familial cold autoinflammatory syndrome 2 | 2021-06-22 | criteria provided, single submitter | clinical testing | |
| Genome Diagnostics Laboratory, |
RCV002263727 | SCV002542557 | uncertain significance | Autoinflammatory syndrome | 2021-09-15 | criteria provided, single submitter | clinical testing |