Submissions for variant NM_000038.6(APC):c.465A>G (p.Lys155=)

gnomAD frequency: 0.00001  dbSNP: rs778691867

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721463	SCV000535236	likely benign	not provided	2020-01-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27908614, 26900293, 27028212)
Labcorp Genetics (formerly Invitae), Labcorp	RCV003766448	SCV000562605	likely benign	Familial adenomatous polyposis 1	2024-01-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776475	SCV000912028	likely benign	Hereditary cancer-predisposing syndrome	2017-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000776475	SCV002636834	likely benign	Hereditary cancer-predisposing syndrome	2020-03-05	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	RCV004000568	SCV004837277	likely benign	Classic or attenuated familial adenomatous polyposis	2023-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003766448	SCV004933295	benign	Familial adenomatous polyposis 1	2024-02-23	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.