ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3792A>G (p.Val1264=)

dbSNP: rs1765523305
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186627 SCV001353104 likely benign Hereditary cancer-predisposing syndrome 2019-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770083 SCV002454068 likely benign Familial adenomatous polyposis 1 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001186627 SCV002620109 likely benign Hereditary cancer-predisposing syndrome 2020-09-22 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 RCV004008620 SCV004837840 likely benign Classic or attenuated familial adenomatous polyposis 2023-10-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003770083 SCV004931177 benign Familial adenomatous polyposis 1 2024-03-22 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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