ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1479del (p.Lys493fs)

dbSNP: rs1762114658
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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 RCV001346666 SCV001540888 pathogenic not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys493Asnfs*31) 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: 1042674). For these reasons, this variant has been classified as Pathogenic.
Genomic Center, National Cancer Institute RCV002275358 SCV002559917 likely pathogenic Polyposis syndrome, hereditary mixed, 1 no assertion criteria provided case-control

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