ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.818dup (p.Gly274fs)

dbSNP: rs1760472413
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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 RCV001239095 SCV001411942 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 964796). 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.Gly274Argfs*11) 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). For these reasons, this variant has been classified as Pathogenic.

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