ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.291dup (p.Ala98fs)

dbSNP: rs1566603492
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
Baylor Genetics RCV003464952 SCV004216453 likely pathogenic Wilson disease 2023-03-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003464952 SCV005381309 pathogenic Wilson disease 2024-08-06 criteria provided, single submitter clinical testing Variant summary: ATP7B c.291dupT (p.Ala98CysfsX65) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 249376 control chromosomes. To our knowledge, no occurrence of c.291dupT in individuals affected with Wilson Disease and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2679814). Based on the evidence outlined above, the variant was classified as pathogenic.
All of Us Research Program, National Institutes of Health RCV003464952 SCV005428119 pathogenic Wilson disease 2024-03-24 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 2/21 of the ATP7B gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with ATP7B-related disorders in the literature. This variant has been identified in 1/249376 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of ATP7B function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003464952 SCV005635257 likely pathogenic Wilson disease 2024-03-14 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.