ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1544C>G (p.Ser515Ter)

dbSNP: rs1762138459
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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 RCV001350754 SCV001545172 pathogenic not provided 2023-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1046228). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser515*) 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).
Ambry Genetics RCV003294379 SCV003996389 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-21 criteria provided, single submitter clinical testing The p.S515* variant (also known as c.1544C>G), located in coding exon 10 of the CTNNA1 gene, results from a C to G substitution at nucleotide position 1544. This changes the amino acid from a serine to a stop codon within coding exon 10. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Myriad Genetics, Inc. RCV004036634 SCV004930970 pathogenic Hereditary diffuse gastric adenocarcinoma 2024-03-11 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.

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