ClinVar Miner

Submissions for variant NM_000038.5(APC):c.645+1G>A (rs863225370)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000202059 SCV000322199 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing This variant is denoted APC c.645+1G>A or IVS6+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 6 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 reported in individuals with a history of familial adenomatous polyposis (Olschwang 1993, Lagarde 2010). Based on the currently available information, we consider APC c.645+1G>A to be a likely pathogenic variant.
Invitae RCV000231167 SCV000282796 likely pathogenic Familial adenomatous polyposis 1 2016-01-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the APC gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic (PMID: 20685668, 17963004). This variant has been reported in the literature in individuals with familial adenomatous polyposis (PMID: 8381580, 20685668). Although donor splice site variants are typically pathogenic (PMID: 16199547), in the absence of functional or genetic data, this variant has been classified as Likely Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202059 SCV000257024 pathogenic not provided no assertion criteria provided research

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