ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) (rs756718353)

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 RCV000670652 SCV000795534 uncertain significance Wilson disease 2017-11-09 criteria provided, single submitter clinical testing
Invitae RCV000670652 SCV001206142 uncertain significance Wilson disease 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 196 of the ATP7B protein (p.Asp196Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs756718353, ExAC 0.05%). This variant has been observed in individual(s) with Wilson disease (PMID: 26483271, 24119323). ClinVar contains an entry for this variant (Variation ID: 554931). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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.