ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.648del (p.Asn217fs)

dbSNP: rs1760445854
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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 RCV001320158 SCV001510933 pathogenic not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn217Thrfs*27) 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: 1020564). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV003375217 SCV004096386 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-29 criteria provided, single submitter clinical testing The c.648delG variant, located in coding exon 5 of the CTNNA1 gene, results from a deletion of one nucleotide at nucleotide position 648, causing a translational frameshift with a predicted alternate stop codon (p.N217Tfs*27). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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