ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1863T>C (p.Thr621=)

gnomAD frequency: 0.00001  dbSNP: rs72541808
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004019699 SCV000166017 likely benign Familial adenomatous polyposis 1 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568132 SCV000667377 likely benign Hereditary cancer-predisposing syndrome 2015-06-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000568132 SCV000681491 likely benign Hereditary cancer-predisposing syndrome 2016-09-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000122760 SCV001133306 likely benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568132 SCV002530975 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267861 SCV002550590 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997370 SCV004839619 likely benign Classic or attenuated familial adenomatous polyposis 2023-08-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004019699 SCV004933417 benign Familial adenomatous polyposis 1 2024-03-07 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen RCV000122760 SCV005042211 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing APC: BP4, BP7

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