Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001085780 | SCV000435531 | likely benign | Alzheimer disease | 2018-01-12 | 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. |
| Gene |
RCV000766535 | SCV000526363 | uncertain significance | not provided | 2016-03-24 | criteria provided, single submitter | clinical testing | The S198P variant in the APP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S198P variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S198P 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S198P as a variant of uncertain significance. |
| Athena Diagnostics Inc | RCV000432326 | SCV000612392 | benign | not specified | 2017-03-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001085780 | SCV001015992 | benign | Alzheimer disease | 2024-01-09 | criteria provided, single submitter | clinical testing |