ClinVar Miner

Submissions for variant NM_000038.6(APC):c.839C>G (p.Ser280Ter) (rs137854569)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503268 SCV000591055 pathogenic Familial multiple polyposis syndrome 2013-03-08 criteria provided, single submitter clinical testing
Invitae RCV000812809 SCV000953134 pathogenic Familial adenomatous polyposis 1 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser280*) 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 observed in an individual affected with familial adenomatous polyposis (PMID: 1651563). ClinVar contains an entry for this variant (Variation ID: 799). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000836 SCV000020986 pathogenic Gardner syndrome 1991-08-09 no assertion criteria provided literature only

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