Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000723993 | SCV000225819 | uncertain significance | not provided | 2014-08-25 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000320799 | SCV000398361 | uncertain significance | Retinitis pigmentosa | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV000723993 | SCV000568882 | uncertain significance | not provided | 2015-12-03 | criteria provided, single submitter | clinical testing | The S293N variant in the CNGB1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S293N variant was not observed at any significant frequency in approximately 6200 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 S293N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved; Asparagine is seen in one species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret S293N as a variant of uncertain significance. |
| Invitae | RCV000723993 | SCV001673821 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |