Submissions for variant NM_000038.6(APC):c.5271T>C (p.Ser1757=)

gnomAD frequency: 0.00002  dbSNP: rs752875511

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163806	SCV000214389	likely benign	Hereditary cancer-predisposing syndrome	2015-01-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000196119	SCV000252929	likely benign	Familial adenomatous polyposis 1	2024-12-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000253153	SCV000301600	benign	not specified		criteria provided, single submitter	clinical testing
Counsyl	RCV000196119	SCV000487779	likely benign	Familial adenomatous polyposis 1	2015-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000253153	SCV000512078	likely benign	not specified	2018-01-12	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	RCV000163806	SCV000681724	likely benign	Hereditary cancer-predisposing syndrome	2016-08-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163806	SCV002535552	likely benign	Hereditary cancer-predisposing syndrome	2021-12-16	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000196119	SCV004015825	benign	Familial adenomatous polyposis 1	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000196119	SCV004018654	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.
CeGaT Center for Human Genetics Tuebingen	RCV003326363	SCV004032616	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003995284	SCV004838035	likely benign	Classic or attenuated familial adenomatous polyposis	2024-01-11	criteria provided, single submitter	clinical testing