ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068702 SCV001233829 pathogenic Wilson disease 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 975 of the ATP7B protein (p.Ser975Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs778163447, ExAC 0.01%). This variant has been observed in combination with another ATP7B variant in several individuals affected with Wilson disease (PMID: 27398169,23235335, 18841564). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.