Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002318615 | SCV000849841 | uncertain significance | Inborn genetic diseases | 2017-06-07 | criteria provided, single submitter | clinical testing | The c.294-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 2 in the CACNA1A gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Athena Diagnostics | RCV000991667 | SCV001143320 | uncertain significance | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001862057 | SCV002314530 | uncertain significance | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the CACNA1A gene. It does not directly change the encoded amino acid sequence of the CACNA1A protein. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 589192). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |