Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494033 | SCV000582660 | likely benign | not provided | 2020-07-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28492532, 31719132) |
Labcorp Genetics |
RCV000707375 | SCV000836470 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323856 | SCV002609902 | uncertain significance | Inborn genetic diseases | 2018-02-28 | criteria provided, single submitter | clinical testing | The p.A1077T variant (also known as c.3229G>A), located in coding exon 20 of the CACNA1A gene, results from a G to A substitution at nucleotide position 3229. The alanine at codon 1077 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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. |
Athena Diagnostics | RCV004999538 | SCV002770648 | likely benign | not specified | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000494033 | SCV004811663 | uncertain significance | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing |