ClinVar Miner

Submissions for variant NM_000038.6(APC):c.684_687del (p.Leu229fs) (rs1554074759)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551559 SCV000647672 pathogenic Familial adenomatous polyposis 1 2017-03-03 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 7 of the APC mRNA (c.684_687delACTT), causing a frameshift at codon 229. This creates a premature translational stop signal (p.Leu229Valfs*63) 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.

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