ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)

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
Ambry Genetics RCV002455503 SCV002736073 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The p.I822V variant (also known as c.2464A>G), located in coding exon 10 of the ATP7A gene, results from an A to G substitution at nucleotide position 2464. The isoleucine at codon 822 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on data from gnomAD, the G allele has an overall frequency of 0.0005%% (1/182480) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.001% (1/81716) of non-Finnish European alleles. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003101848 SCV003467397 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-07-01 criteria provided, single submitter 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.