ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2325T>C (p.Asn775=)

gnomAD frequency: 0.00001  dbSNP: rs779918968
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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 RCV000584058 SCV000686888 likely benign Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562570 SCV000768403 likely benign Familial adenomatous polyposis 1 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584058 SCV001176003 likely benign Hereditary cancer-predisposing syndrome 2018-12-21 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 RCV004001285 SCV004839667 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562570 SCV004931642 benign Familial adenomatous polyposis 1 2024-03-11 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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