Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000687354 | SCV000814917 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2022-05-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996772 | SCV001151687 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000996772 | SCV001802155 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31719132, 28492532) |
Ambry Genetics | RCV002360723 | SCV002665032 | uncertain significance | Inborn genetic diseases | 2019-06-14 | criteria provided, single submitter | clinical testing | The p.R2240W variant (also known as c.6718C>T), located in coding exon 46 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6718. The arginine at codon 2240 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |