ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3892dup (p.Ser1298fs)

dbSNP: rs1580641218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021374 SCV001182983 pathogenic Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing The c.3892dupT pathogenic mutation, located in coding exon 15 of the APC gene, results from a duplication of T at nucleotide position 3892, causing a translational frameshift with a predicted alternate stop codon (p.S1298Ffs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV004563680 SCV004045487 pathogenic Familial adenomatous polyposis 1 2023-05-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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