ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)

dbSNP: rs201498915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816829 SCV000957355 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg451*) 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 premature translational stop signal has been observed in individual(s) with diffuse gastric cancer (PMID: 32051609). ClinVar contains an entry for this variant (Variation ID: 659776). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002381837 SCV002690193 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-19 criteria provided, single submitter clinical testing The p.R451* variant (also known as c.1351C>T), located in coding exon 9 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 1351. This changes the amino acid from an arginine to a stop codon within coding exon 9. In one study, this alteration was identified in three separate families with early-onset diffuse gastric cancer or breast cancer (Clark DF et al. Genet Med, 2020 05;22:840-846). 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.
Myriad Genetics, Inc. RCV003453719 SCV004186722 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.
Baylor Genetics RCV004569722 SCV005058592 pathogenic Patterned macular dystrophy 2 2023-12-21 criteria provided, single submitter clinical testing

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