Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532320 | SCV000656788 | benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315037 | SCV000848940 | uncertain significance | Inborn genetic diseases | 2018-11-29 | criteria provided, single submitter | clinical testing | The p.V2128M variant (also known as c.6382G>A), located in coding exon 45 of the CACNA1A gene, results from a G to A substitution at nucleotide position 6382. The valine at codon 2128 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved on limited sequence alignment. 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 variant remains unclear. |