Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001090872 | SCV000240474 | likely benign | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21683344) |
Ambry Genetics | RCV002316283 | SCV000851365 | uncertain significance | Inborn genetic diseases | 2016-12-01 | criteria provided, single submitter | clinical testing | The p.V410I variant (also known as c.1228G>A), located in coding exon 5 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 1228. The valine at codon 410 is replaced by isoleucine, an amino acid with highly similar properties. 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 alteration remains unclear. |
Ce |
RCV001090872 | SCV001246634 | likely benign | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514505 | SCV003248736 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-07-27 | criteria provided, single submitter | clinical testing | |
Psychiatry Genetics Yale University | RCV000084600 | SCV000116736 | not provided | Tobacco use disorder | no assertion provided | not provided |