ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)

dbSNP: rs1754363697
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214346 SCV001386023 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile431Argfs*16) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNA1 are known to be pathogenic (PMID: 32051609, 34425242). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 944033). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002379811 SCV002692831 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter clinical testing The c.1292_1295delTTGA variant, located in coding exon 8 of the CTNNA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1292 to 1295, causing a translational frameshift with a predicted alternate stop codon (p.I431Rfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Myriad Genetics, Inc. RCV003449677 SCV004186811 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.