Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056581 | SCV001221031 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002355046 | SCV002619649 | uncertain significance | Inborn genetic diseases | 2017-09-26 | criteria provided, single submitter | clinical testing | The p.A134V variant (also known as c.401C>T), located in coding exon 5 of the CHRNA4 gene, results from a C to T substitution at nucleotide position 401. The alanine at codon 134 is replaced by valine, an amino acid with similar properties. This amino acid position is 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. |