ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4755A>G (p.Thr1585=)

dbSNP: rs2149922960
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844463 SCV002103396 likely benign not specified 2022-02-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584993 SCV004361358 likely benign Hereditary cancer-predisposing syndrome 2022-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004041053 SCV004530853 likely benign Familial adenomatous polyposis 1 2023-06-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009169 SCV004837961 likely benign Classic or attenuated familial adenomatous polyposis 2023-03-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004041053 SCV004933229 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.
Ambry Genetics RCV003584993 SCV006049039 likely benign Hereditary cancer-predisposing syndrome 2025-02-15 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.

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