Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000432692 | SCV000529769 | uncertain significance | not provided | 2016-07-13 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CACNA1A gene. The c.2757 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2757 C>T variant was not observed with any significant frequency in approximately 5,600 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This substitution occurs at a position that is not conserved. Several in-silico splice prediction models predict that c.2757 C>T creates a cryptic donor site which may supplant the natural donor site in exon 19 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 variant or a rare benign variant. |
| Invitae | RCV000691135 | SCV000818878 | benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-14 | criteria provided, single submitter | clinical testing |