Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001892794 | SCV002154745 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458720 | SCV002617360 | uncertain significance | Inborn genetic diseases | 2020-03-16 | criteria provided, single submitter | clinical testing | The p.V1199I variant (also known as c.3595G>A), located in coding exon 17 of the ATP7A gene, results from a G to A substitution at nucleotide position 3595. The valine at codon 1199 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other 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. |