Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000189201 | SCV000242833 | uncertain significance | not provided | 2015-12-02 | criteria provided, single submitter | clinical testing | c.1035-15 C>G: IVS8-15 C>G in intron 8 of the SCN2A gene (NM_021007.2). A variant of unknown significance has been identified in the SCN2A gene. The c.1035-15 C>G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1035-15 C>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1035-15 C>G may damage or destroy the natural acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s). |
| Illumina Laboratory Services, |
RCV000308893 | SCV000417396 | uncertain significance | Seizures, benign familial infantile, 3 | 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. |
| Labcorp Genetics |
RCV002514057 | SCV003445341 | likely benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-08-03 | criteria provided, single submitter | clinical testing |