ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)

gnomAD frequency: 0.00001  dbSNP: rs201855906
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 RCV001067666 SCV001232736 uncertain significance Wilson disease 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 350 of the ATP7B protein (p.Pro350Leu). This variant is present in population databases (rs201855906, gnomAD 0.01%). 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: 861197). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252312 SCV002522906 uncertain significance See cases 2021-11-23 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Fulgent Genetics, Fulgent Genetics RCV001067666 SCV002785710 uncertain significance Wilson disease 2022-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001067666 SCV001463855 uncertain significance Wilson disease 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.