Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002413112 | SCV002722120 | uncertain significance | Inborn genetic diseases | 2021-12-14 | criteria provided, single submitter | clinical testing | The p.I619M variant (also known as c.1857C>G), located in coding exon 6 of the ATP7A gene, results from a C to G substitution at nucleotide position 1857. The isoleucine at codon 619 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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 | RCV003097300 | SCV003448581 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2022-06-22 | criteria provided, single submitter | clinical testing |