ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4033G>T (p.Glu1345Ter)

dbSNP: rs1211642532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522251 SCV000617341 pathogenic not provided 2017-07-25 criteria provided, single submitter clinical testing This variant is denoted APC c.4033G>T at the cDNA level and p.Glu1345Ter (E1345X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon(GAA>TAA), and is predicted to cause loss of normal protein function through protein truncation. This variant has beenreported in an individual with colorectal cancer and greater than 100 adenomas and is considered pathogenic (Gómez-Fernández 2009)
Myriad Genetics, Inc. RCV003335447 SCV004045385 pathogenic Familial adenomatous polyposis 1 2023-05-10 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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