Submissions for variant NM_000038.6(APC):c.259C>T (p.Leu87=)

dbSNP: rs569640184

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004562275	SCV000166022	benign	Familial adenomatous polyposis 1	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000163523	SCV000214081	likely benign	Hereditary cancer-predisposing syndrome	2015-04-21	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.
GeneDx	RCV000122765	SCV000524797	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163523	SCV000681538	benign	Hereditary cancer-predisposing syndrome	2016-05-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000122765	SCV001133312	benign	not provided	2019-02-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163523	SCV002538449	benign	Hereditary cancer-predisposing syndrome	2021-04-13	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV004562275	SCV004015892	benign	Familial adenomatous polyposis 1	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493448	SCV004243224	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997373	SCV004841713	benign	Classic or attenuated familial adenomatous polyposis	2023-12-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV003493448	SCV004848571	likely benign	not specified	2021-09-03	criteria provided, single submitter	clinical testing	The p.Leu87Leu variant in APC is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.21% (64/30616) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BP7.
Myriad Genetics, Inc.	RCV004562275	SCV004932628	benign	Familial adenomatous polyposis 1	2024-02-22	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003493448	SCV005726227	benign	not specified	2024-11-16	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005359148	SCV005913514	likely benign	Gardner syndrome; Turcot syndrome with polyposis	2021-11-30	criteria provided, single submitter	clinical testing