ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6504A>C (p.Leu2168=)

gnomAD frequency: 0.00001  dbSNP: rs750058868
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004562869 SCV001079055 likely benign Familial adenomatous polyposis 1 2024-12-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181770 SCV001346973 likely benign Hereditary cancer-predisposing syndrome 2020-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181770 SCV002659191 likely benign Hereditary cancer-predisposing syndrome 2020-11-15 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478585 SCV004219650 likely benign not provided 2023-03-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562869 SCV005082090 benign Familial adenomatous polyposis 1 2024-04-04 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.
All of Us Research Program, National Institutes of Health RCV004807227 SCV005427699 likely benign Classic or attenuated familial adenomatous polyposis 2024-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983282 SCV004800252 likely benign APC-related disorder 2024-02-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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