ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)

gnomAD frequency: 0.00002  dbSNP: rs1557238006
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002090753 SCV002372720 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002993470 SCV003583627 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.3533A>G (p.Y1178C) alteration is located in exon 18 (coding exon 17) of the ATP7A gene. This alteration results from a A to G substitution at nucleotide position 3533, causing the tyrosine (Y) at amino acid position 1178 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.