ClinVar Miner

Submissions for variant NM_000038.6(APC):c.422+2T>C (rs879254169)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235994 SCV000293703 likely pathogenic not provided 2015-12-17 criteria provided, single submitter clinical testing This variant is denoted APC c.422+2T>C or IVS4+2T>C and consists of a T>C nucleotide substitution at the +2 position of intron 4 of the APC gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been identified in at least 2 individuals being evaluated for Familial Adenomatous Polyposis (FAP) (Lagarde 2010, Kerr 2013). Based on the currently available information, we consider APC c.422+2T>C to be a likely pathogenic variant.
Counsyl RCV000411017 SCV000489058 likely pathogenic Familial adenomatous polyposis 1 2016-08-09 criteria provided, single submitter clinical testing

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