ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1866_1867delinsAT (p.Tyr622_Arg623delinsTer)

dbSNP: rs878853419
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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 RCV000229977 SCV000282704 pathogenic Familial adenomatous polyposis 1 2016-01-30 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides and inserts 2 nucleotides in exon 15 of the APC mRNA (c.1866_1867delCCinsAT), creating a premature translational stop signal at codon 622 (p.Tyr622*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in APC are known to be pathogenic (PMID: 17963004, 20685668). Different sequence changes that also lead to truncations at this position have been reported in individuals either suspected or known to be affected with familial adenomatous polyposis (PMID: 20223039, 1316610, 17963004). For these reasons, this variant has been classified as Pathogenic.

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