ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1917dup (p.Arg640fs) (rs397515732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844609 SCV000058707 likely pathogenic Familial multiple polyposis syndrome 2012-04-24 criteria provided, single submitter clinical testing The Arg640ThrfsX11 variant has been reported in 1 individual with clinical featu res of FAP out of 27 Italian probands (Gismondi 1997). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 64 0 and lead to a premature termination codon 11 amino acids downstream. This alte ration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of function of the APC gene is an established disease mechanism in familial adenomatous polyposis (FAP) patients. In summary, this variant is l ikely to be pathogenic, though segregation studies and functional analyses are r equired to fully establish the pathogenicity of this variant.
Counsyl RCV000035067 SCV000488571 likely pathogenic Familial adenomatous polyposis 1 2016-04-28 criteria provided, single submitter clinical testing

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