ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1715T>A (p.Leu572Ter) (rs886039511)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255299 SCV000322204 likely pathogenic not provided 2016-04-25 criteria provided, single submitter clinical testing This variant is denoted APC c.1715T>A at the cDNA level and p.Leu572Ter (L572X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with a personal history of multiple colon polyps, suggestive of either Attenuated Familial Adenomatous Polyposis or Familial Adenomatous Polyposis (Vandrovcová 2004). We considered this variant to be likely pathogenic.

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