ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)

dbSNP: rs1758714268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053720 SCV001217996 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 849700). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu444Glyfs*23) 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).
Myriad Genetics, Inc. RCV003455237 SCV004186766 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.

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