ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) (rs777629392)

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
Counsyl RCV000670079 SCV000794895 likely pathogenic Wilson disease 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000670079 SCV001201648 pathogenic Wilson disease 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 850 of the ATP7B protein (p.Thr850Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs777629392, ExAC 0.01%). This variant has been observed in combination with another ATP7B variant in several individuals affected with Wilson disease (PMID: 21034864, 27398169, 29321352). ClinVar contains an entry for this variant (Variation ID: 554444). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic.

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.