Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002315423 | SCV000849293 | uncertain significance | Inborn genetic diseases | 2017-04-04 | criteria provided, single submitter | clinical testing | The p.D517N variant (also known as c.1549G>A), located in coding exon 11 of the CACNA1A gene, results from a G to A substitution at nucleotide position 1549. The aspartic acid at codon 517 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV001248296 | SCV001421769 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV003482301 | SCV004229448 | uncertain significance | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function. This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. |