ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)

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
Ambry Genetics RCV002421960 SCV002724774 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing The c.1006delG variant, located in coding exon 6 of the CTNNA1 gene, results from a deletion of one nucleotide at nucleotide position 1006, causing a translational frameshift with a predicted alternate stop codon (p.E336Sfs*33). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Myriad Genetics, Inc. RCV003454320 SCV004186733 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-07-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.