ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro)

gnomAD frequency: 0.00001  dbSNP: rs377492122
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499538 SCV000593532 uncertain significance not specified 2017-04-06 criteria provided, single submitter clinical testing
Invitae RCV001363728 SCV001559853 uncertain significance Wilson disease 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1454 of the ATP7B protein (p.Leu1454Pro). This variant is present in population databases (rs377492122, gnomAD 0.0008%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 434448). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATP7B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001363728 SCV002027145 uncertain significance Wilson disease 2021-09-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261096 SCV002541575 uncertain significance not provided 2021-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001363728 SCV002817082 uncertain significance Wilson disease 2021-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001363728 SCV002086777 uncertain significance Wilson disease 2020-10-12 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.