ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) (rs267606672)

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
Invitae RCV001206423 SCV001377731 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1386 of the ATP7A protein (p.Pro1386Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with distal motor neuropathy in a family (PMID: 20170900). ClinVar contains an entry for this variant (Variation ID: 11795). This variant has been reported to affect ATP7A protein function (PMID: 20170900, 22210628, 28119449). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012562 SCV000032796 pathogenic Distal spinal muscular atrophy, X-linked 3 2010-03-12 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789728 SCV000929105 uncertain significance Charcot-Marie-Tooth disease 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.