ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1078_1081del (p.Arg360fs)

dbSNP: rs1753991365
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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 RCV001057098 SCV001221574 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: 852483). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32051609). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg360Valfs*8) 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).
Myriad Genetics, Inc. RCV004031799 SCV004930938 pathogenic Hereditary diffuse gastric adenocarcinoma 2024-02-21 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004609600 SCV005103483 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-07 criteria provided, single submitter clinical testing The c.1078_1081delAGAA variant, located in coding exon 7 of the CTNNA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1078 to 1081, causing a translational frameshift with a predicted alternate stop codon (p.R360Vfs*8). 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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