ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1489C>T (p.Leu497=)

gnomAD frequency: 0.00001  dbSNP: rs768973715
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584475 SCV000686834 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584475 SCV002701658 likely benign Hereditary cancer-predisposing syndrome 2021-09-04 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.
All of Us Research Program, National Institutes of Health RCV004001281 SCV004837410 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562552 SCV004930767 benign Familial adenomatous polyposis 1 2024-03-04 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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