ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6837A>G (p.Lys2279=)

gnomAD frequency: 0.00002  dbSNP: rs1057521763
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000985314 SCV000524446 likely benign not provided 2020-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575673 SCV000667341 likely benign Hereditary cancer-predisposing syndrome 2017-07-06 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 RCV000985314 SCV001133357 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000575673 SCV001341623 likely benign Hereditary cancer-predisposing syndrome 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004563335 SCV001698919 likely benign Familial adenomatous polyposis 1 2024-08-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000399 SCV004843469 likely benign Classic or attenuated familial adenomatous polyposis 2023-04-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563335 SCV005083738 benign Familial adenomatous polyposis 1 2024-04-05 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.
PreventionGenetics, part of Exact Sciences RCV003897883 SCV004710772 likely benign APC-related disorder 2023-08-16 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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