ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1768C>T (p.Gln590Ter)

dbSNP: rs926691029
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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 RCV001229912 SCV001402375 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln590*) 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: 957004). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004590252 SCV005083710 pathogenic Hereditary diffuse gastric adenocarcinoma 2024-06-25 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 RCV004951371 SCV005568405 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-26 criteria provided, single submitter clinical testing The p.Q590* variant (also known as c.1768C>T), located in coding exon 12 of the CTNNA1 gene, results from a C to T substitution at nucleotide position 1768. This changes the amino acid from a glutamine to a stop codon within coding exon 12. 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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