Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058784 | SCV001223377 | 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 | |
Ambry Genetics | RCV002402423 | SCV002709443 | uncertain significance | Inborn genetic diseases | 2022-02-28 | criteria provided, single submitter | clinical testing | The p.A525G variant (also known as c.1574C>G), located in coding exon 5 of the ATP7A gene, results from a C to G substitution at nucleotide position 1574. The alanine at codon 525 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly 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. |
Natera, |
RCV001274231 | SCV001458104 | uncertain significance | Menkes kinky-hair syndrome | 2019-12-31 | no assertion criteria provided | clinical testing |