ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2544A>G (p.Lys848=)

dbSNP: rs764867930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564373 SCV000827176 likely benign Familial adenomatous polyposis 1 2024-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015869 SCV001176752 likely benign Hereditary cancer-predisposing syndrome 2018-01-19 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 RCV001015869 SCV001355998 likely benign Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999681 SCV004839693 likely benign Classic or attenuated familial adenomatous polyposis 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004564373 SCV004930614 benign Familial adenomatous polyposis 1 2024-03-14 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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