ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5718del (p.Ala1907fs) (rs1554086923)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000614623 SCV000712029 likely pathogenic Familial multiple polyposis syndrome 2016-07-26 criteria provided, single submitter clinical testing The p.Ala1907fs 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 1907 and leads to a premature termination codon 1 2 amino acids downstream. This termination codon occurs in the last exon and may escape nonsense mediated decay resulting in a truncated protein (925 amino acid s shorter). Loss-of-function APC variants in this exon have been reported in ind ividuals with FAP. In summary, although additional studies are required to fully establish its clinical significance, the p.Ala1907Leufs variant is likely patho genic.

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