ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)

dbSNP: rs1581105774
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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 RCV000791821 SCV000931085 pathogenic not provided 2023-07-19 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: 639104). 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.Thr136Asnfs*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).
Ambry Genetics RCV001021801 SCV001183462 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-06 criteria provided, single submitter clinical testing The c.406dupA variant, located in coding exon 3 of the CTNNA1 gene, results from a duplication of A at nucleotide position 406, causing a translational frameshift with a predicted alternate stop codon (p.T136Nfs*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.
Myriad Genetics, Inc. RCV003316808 SCV004019774 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-04-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV004569496 SCV005058593 likely pathogenic Patterned macular dystrophy 2 2023-12-20 criteria provided, single submitter clinical testing

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