ClinVar Miner

Submissions for variant NM_000038.6(APC):c.874_880del (p.Ser293fs)

dbSNP: rs1060503263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564048 SCV000552466 pathogenic Familial adenomatous polyposis 1 2016-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This sequence change deletes 7 nucleotides from exon 9 of the APC mRNA (c.874_880delTTGAGTT), causing a frameshift at codon 293. This creates a premature translational stop signal (p.Ser293Valfs*10) and is expected to result in an absent or disrupted protein product.

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