ClinVar Miner

Submissions for variant NM_000038.6(APC):c.74_75del (p.Gln25fs) (rs1554067124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536195 SCV000647711 pathogenic Familial adenomatous polyposis 1 2017-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln25Argfs*5) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual evaluated for familial adenomatous polyposis (PMID: 23159591). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657188 SCV000778910 pathogenic not provided 2018-05-07 criteria provided, single submitter clinical testing This deletion of two nucleotides in APC is denoted c.74_75delAA at the cDNA level and p.Gln25ArgfsX5 (Q25RfsX5) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CGAC[delAA]GAGC. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 25, and creates a premature stop codon at position 5 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. APC c.74_75delAA has been observed in at least one individual undergoing genetic testing due to a clinical presentation suggestive of familial adenomatous polyposis (Kerr 2013). We consider this variant to be pathogenic.

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