ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4752A>C (p.Pro1584=)

dbSNP: rs1554086150
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563993 SCV000672523 likely benign Hereditary cancer-predisposing syndrome 2017-05-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528953 SCV000768317 likely benign Familial adenomatous polyposis 1 2025-02-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563993 SCV002532621 likely benign Hereditary cancer-predisposing syndrome 2021-08-02 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004001096 SCV004832755 likely benign Classic or attenuated familial adenomatous polyposis 2023-06-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002528953 SCV004933004 benign Familial adenomatous polyposis 1 2024-03-27 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.
Color Diagnostics, LLC DBA Color Health RCV000563993 SCV006064303 likely benign Hereditary cancer-predisposing syndrome 2023-06-19 criteria provided, single submitter clinical testing

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