ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)

gnomAD frequency: 0.00002  dbSNP: rs1385333276
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001043827 SCV001207594 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348365 SCV002622534 uncertain significance Inborn genetic diseases 2020-04-27 criteria provided, single submitter clinical testing The p.M1246V variant (also known as c.3736A>G), located in coding exon 18 of the ATP7A gene, results from an A to G substitution at nucleotide position 3736. The methionine at codon 1246 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV005001136 SCV005626526 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in relation to ATP7A-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 33151932)
Natera, Inc. RCV001043827 SCV001457714 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-09-16 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.