ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1759dup (p.Ser587fs)

dbSNP: rs1554083100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564051 SCV000552477 pathogenic Familial adenomatous polyposis 1 2016-07-29 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 15 of the APC mRNA (c.1759dupA), causing a frameshift at codon 587. This creates a premature translational stop signal (p.Ser587Lysfs*15) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004564051 SCV004043702 pathogenic Familial adenomatous polyposis 1 2023-05-03 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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