ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) (rs1131691741)

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
GeneDx RCV000494555 SCV000582735 likely pathogenic not provided 2016-02-24 criteria provided, single submitter clinical testing The Y1331S variant in the ATP7B gene has previously been reported in association with Wilson disease, although clinical information on this individual was not provided (Cox et al., 2005). The Y1331S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (L1327V, A1328T, L1329P, N1332D/K, V1334D, G1335R, I1336T) have been reported in the Human Gene Mutation Database in association with Wilson disease (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret Y1331S to be a likely pathogenic variant.
Counsyl RCV000984147 SCV001132127 uncertain significance Wilson disease 2019-01-23 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.