ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1947-5A>G

gnomAD frequency: 0.00001  dbSNP: rs1557234466
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823770 SCV000964640 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408994 SCV002723989 uncertain significance Inborn genetic diseases 2018-02-15 criteria provided, single submitter clinical testing The c.1947-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 8 in the ATP7A gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825672 SCV002089067 uncertain significance Menkes kinky-hair syndrome 2020-12-01 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.