ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.2017_2018dup (p.Met673fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003301439 SCV003996403 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-11 criteria provided, single submitter clinical testing The c.2017_2018dupAT variant, located in coding exon 14 of the CTNNA1 gene, results from a duplication of AT at nucleotide position 2017, causing a translational frameshift with a predicted alternate stop codon (p.M673Ifs*50). 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. RCV003455788 SCV004185942 likely pathogenic Hereditary diffuse gastric adenocarcinoma 2023-11-27 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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