ClinVar Miner

Submissions for variant NM_000038.6(APC):c.252A>G (p.Gly84=)

gnomAD frequency: 0.00001  dbSNP: rs375051600
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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 RCV001015846 SCV001176726 likely benign Hereditary cancer-predisposing syndrome 2018-06-20 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.
Color Diagnostics, LLC DBA Color Health RCV001015846 SCV001353781 likely benign Hereditary cancer-predisposing syndrome 2019-07-19 criteria provided, single submitter clinical testing
Invitae RCV003769478 SCV002429191 likely benign Familial adenomatous polyposis 1 2023-07-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001015846 SCV002537088 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-26 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004004551 SCV004841712 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004030375 SCV004931790 benign Familial adenomatous polyposis 1 2024-02-22 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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