Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066471 | SCV001231482 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411594 | SCV002714799 | uncertain significance | Inborn genetic diseases | 2018-05-16 | criteria provided, single submitter | clinical testing | The p.R354H variant (also known as c.1061G>A), located in coding exon 5 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 1061. The arginine at codon 354 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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. |