ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)

dbSNP: rs1340942427
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817111 SCV000957654 pathogenic Wilson disease 2020-02-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1295 of the ATP7B protein (p.Ala1295Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Wilson disease in individuals and families (PMID: 23843956, 27930511, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant and has also been observed in the homozygous state. 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.
Genome-Nilou Lab RCV000817111 SCV001977228 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000817111 SCV002788876 pathogenic Wilson disease 2024-03-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000817111 SCV004216398 pathogenic Wilson disease 2024-02-27 criteria provided, single submitter 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.