ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1241_1246delinsA (p.Arg414fs)

dbSNP: rs1580530928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003535960 SCV000945984 pathogenic Familial adenomatous polyposis 1 2018-11-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg414Glnfs*3) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000806005 SCV004044520 pathogenic Familial adenomatous polyposis 1 2023-05-01 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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