ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5409A>G (p.Arg1803=)

gnomAD frequency: 0.00001  dbSNP: rs766679576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001024055 SCV001186009 likely benign Hereditary cancer-predisposing syndrome 2018-03-23 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 RCV004563496 SCV001677316 likely benign Familial adenomatous polyposis 1 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004083 SCV004838052 likely benign Classic or attenuated familial adenomatous polyposis 2023-05-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563496 SCV005085027 benign Familial adenomatous polyposis 1 2024-04-02 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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