Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316118 | SCV000847682 | uncertain significance | Inborn genetic diseases | 2016-08-29 | criteria provided, single submitter | clinical testing | The p.P2223L variant (also known as c.6668C>T), located in coding exon 46 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6668. The proline at codon 2223 is replaced by leucine, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5075 samples (10150 alleles) with coverage at this position. This amino acid position is poorly 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 variant remains unclear. |
Invitae | RCV001343264 | SCV001537233 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-21 | criteria provided, single submitter | clinical testing |