ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1959-1G>A (rs863225321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534343 SCV000647210 likely pathogenic Familial adenomatous polyposis 1 2017-04-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 of the APC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in an individual affected with familial adenomatous polyposis (PMID: 20685668). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202143 SCV000256936 pathogenic not provided no assertion criteria provided research

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