ClinVar Miner

Submissions for variant NM_000038.6(APC):c.530del (p.Asn177fs)

dbSNP: rs1757573424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240509 SCV001229100 pathogenic Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn177Ilefs*8) in the APC gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003336303 SCV004043998 pathogenic Familial adenomatous polyposis 1 2023-04-26 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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