ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) (rs769484789)

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 RCV000665788 SCV000789962 likely pathogenic Wilson disease 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV000665788 SCV001235665 pathogenic Wilson disease 2020-09-20 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 1262 of the ATP7B protein (p.Val1262Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs769484789, ExAC 0.009%). This variant has been observed in individual(s) affected with Wilson's disease (PMID: PMID: 10544227, 20485189, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550902). This variant has been reported to affect ATP7B protein function (PMID: 19937698). 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.