Submissions for variant NM_000038.6(APC):c.5274T>A (p.Ser1758=)

gnomAD frequency: 0.00024  dbSNP: rs199600387

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000131241	SCV000186198	benign	Hereditary cancer-predisposing syndrome	2014-10-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV003743590	SCV000252930	benign	Familial adenomatous polyposis 1	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000198344	SCV000488414	likely benign	Familial adenomatous polyposis 1	2016-03-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000131241	SCV000681726	likely benign	Hereditary cancer-predisposing syndrome	2016-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679064	SCV000805428	likely benign	not provided	2017-01-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000502224	SCV000887535	benign	not specified	2022-07-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000502224	SCV001361365	benign	not specified	2022-06-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000679064	SCV001943952	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679064	SCV002062610	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000502224	SCV002068227	likely benign	not specified	2021-12-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000131241	SCV002535564	likely benign	Hereditary cancer-predisposing syndrome	2022-02-02	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000198344	SCV004018080	benign	Familial adenomatous polyposis 1	2023-02-17	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000502224	SCV004025072	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000679064	SCV000591189	uncertain significance	not provided		no assertion criteria provided	clinical testing