Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803093 | SCV000942952 | pathogenic | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2018-12-05 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 16 of the ATP7A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with Menkes disease (PMID: 21494555). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413). For these reasons, this variant has been classified as Pathogenic. |