Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002318876 | SCV000851904 | uncertain significance | Inborn genetic diseases | 2016-09-29 | criteria provided, single submitter | clinical testing | The p.R1211Q variant (also known as c.3632G>A), located in coding exon 17 of the ATP7A gene, results from a G to A substitution at nucleotide position 3632. The arginine at codon 1211 is replaced by glutamine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved through mammals but not in all 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. |
| Invitae | RCV001466222 | SCV001670222 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-19 | criteria provided, single submitter | clinical testing |