ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1370C>A (p.Ser457Ter) (rs1060503333)

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Total submissions: 2
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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 RCV000501164 SCV000591071 pathogenic Familial adenomatous polyposis 2012-04-20 criteria provided, single submitter clinical testing
Invitae RCV000535915 SCV000647170 pathogenic Familial adenomatous polyposis 1 2018-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser457*) 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 several individuals and families affected with familial adenomatous polyposis (FAP) and an individual with concomitant congenital hypertrophy of the retinal pigment epithelium (CHRPE) (PMID: 7959691, 20685668, 20223039). ClinVar contains an entry for this variant (Variation ID: 433620). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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