ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)

gnomAD frequency: 0.00001  dbSNP: rs373634671
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
Invitae RCV001243858 SCV001417044 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001565809 SCV001789224 uncertain significance not provided 2019-10-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479302 SCV004223626 uncertain significance not specified 2023-11-10 criteria provided, single submitter clinical testing Variant summary: ATP7A c.1224A>G (p.Ile408Met) results in a conservative amino acid change located in a Heavy metal-associated domain (IPR006121) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.2e-05 in 181946 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1224A>G in individuals affected with Menkes Kinky-Hair Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Two classified the variant as uncertain significance, and one classified the variant as benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001835185 SCV002089045 uncertain significance Menkes kinky-hair syndrome 2020-11-06 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.