ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6828A>G (p.Pro2276=)

gnomAD frequency: 0.00001  dbSNP: rs758388956
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165972 SCV000216729 likely benign Hereditary cancer-predisposing syndrome 2014-10-02 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.
GeneDx RCV000611572 SCV000721397 likely benign not specified 2017-07-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000165972 SCV000905993 likely benign Hereditary cancer-predisposing syndrome 2018-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562363 SCV001083613 likely benign Familial adenomatous polyposis 1 2024-07-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165972 SCV002534552 likely benign Hereditary cancer-predisposing syndrome 2022-03-13 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003995469 SCV004843468 likely benign Classic or attenuated familial adenomatous polyposis 2023-10-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562363 SCV005084514 benign Familial adenomatous polyposis 1 2024-04-05 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.

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