ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2335T>C (p.Leu779=)

gnomAD frequency: 0.00001  dbSNP: rs369138788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003742605 SCV000647231 likely benign Familial adenomatous polyposis 1 2023-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000614676 SCV000729435 likely benign not specified 2017-10-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000775136 SCV000909252 likely benign Hereditary cancer-predisposing syndrome 2018-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775136 SCV002732992 likely benign Hereditary cancer-predisposing syndrome 2021-05-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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