ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2820G>A (p.Ser940=)

gnomAD frequency: 0.00004  dbSNP: rs780366551
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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 RCV003767013 SCV000647271 likely benign Familial adenomatous polyposis 1 2024-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000840929 SCV000982876 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016691 SCV001177674 likely benign Hereditary cancer-predisposing syndrome 2017-11-02 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 RCV001016691 SCV001343361 likely benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001016691 SCV002527129 benign Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994011 SCV004813078 benign not specified 2024-02-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999377 SCV004839729 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003767013 SCV004933189 benign Familial adenomatous polyposis 1 2024-03-15 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005357595 SCV005913515 likely benign Desmoid disease, hereditary; Familial adenomatous polyposis 1 2024-05-15 criteria provided, single submitter clinical testing

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