ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1412T>A (p.Leu471Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002389547 SCV002701789 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-26 criteria provided, single submitter clinical testing The p.L471* variant (also known as c.1412T>A), located in coding exon 10 of the CTNNA1 gene, results from a T to A substitution at nucleotide position 1412. This changes the amino acid from a leucine to a stop codon within coding exon 10. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, the gene-disease association for CTNNA1 is limited. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546821 SCV004260427 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu471*) 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: 1772070). For these reasons, this variant has been classified as Pathogenic.

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