ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4491A>G (p.Pro1497=)

dbSNP: rs904213754
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561585 SCV000647521 likely benign Familial adenomatous polyposis 1 2024-10-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000582962 SCV000686976 likely benign Hereditary cancer-predisposing syndrome 2016-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582962 SCV002636758 likely benign Hereditary cancer-predisposing syndrome 2020-01-17 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.
All of Us Research Program, National Institutes of Health RCV003999395 SCV004837939 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004561585 SCV004932007 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.

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