ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1924_1927dup (p.Phe643Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003545509 SCV004265919 pathogenic not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe643*) 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. For these reasons, this variant has been classified as Pathogenic.

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