ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)

dbSNP: rs1426385729
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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 RCV001054842 SCV001219197 uncertain significance not provided 2019-10-20 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with CTNNA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val416Argfs*14) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003455249 SCV004186855 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-07-17 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 RCV004031733 SCV005017984 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-22 criteria provided, single submitter clinical testing The c.1246_1249delGTTA variant, located in coding exon 8 of the CTNNA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1246 to 1249, causing a translational frameshift with a predicted alternate stop codon (p.V416Rfs*14). 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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