ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) (rs1554087515)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506387 SCV000600131 likely pathogenic not provided 2017-04-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825578 SCV000966912 likely pathogenic Familial multiple polyposis syndrome 2018-04-20 criteria provided, single submitter clinical testing The p.Ile2181fs variant in APC has not been previously reported in individuals w ith familial adenomatous polyposis (FAP) or in large population studies. This va riant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 2181 and leads to a premature termination codon 1 7 amino acids downstream. This termination codon occurs in the last exon and may escape nonsense mediated deca, therefore resulting in a truncated protein. Trun cating variants in the last exon of APC have been reported in individuals with F AP. In summary, although additional studies are required to fully establish its clinical significance, the p.Ile2181fs variant is likely pathogenic. ACMG/AMP Cr iteria applied: PVS1_Strong; PM2.

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