ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.2043del (p.Ala682fs)

dbSNP: rs2150334022
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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 RCV003101560 SCV003339396 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: 1700591). 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.Ala682Argfs*40) 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).
Genomic Center, National Cancer Institute RCV002274829 SCV002559834 pathogenic Colorectal cancer no assertion criteria provided case-control

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