ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)

gnomAD frequency: 0.00001  dbSNP: rs758599826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053991 SCV001218282 pathogenic not provided 2023-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg129*) 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 present in population databases (rs758599826, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 849931). This premature translational stop signal has been observed in individual(s) with diffuse gastric cancer and/or glioma (PMID: 26182300, 26689913).
Myriad Genetics, Inc. RCV003455238 SCV004186822 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-07-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Ambry Genetics RCV004031696 SCV005018326 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-27 criteria provided, single submitter clinical testing The p.R129* variant (also known as c.385C>T), located in coding exon 3 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 385. This changes the amino acid from an arginine to a stop codon within coding exon 3. 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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