ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)

dbSNP: rs151340632
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194377 SCV000246721 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV003238723 SCV003936448 pathogenic not provided 2023-06-30 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect; N1304S resulted in a significant decrease in copper-transporting capacity with approximately 33% residual copper transport activity compared to wild-type (Tang et al., 2006; Vonk et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21667063, 18256395, 17108763, 28451781)
OMIM RCV000012559 SCV000032793 pathogenic Cutis laxa, X-linked 2006-11-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000012559 SCV004011838 uncertain significance Cutis laxa, X-linked 2016-01-06 no assertion criteria provided literature only

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.