Submissions for variant NM_000038.6(APC):c.4005C>T (p.Ser1335=)

gnomAD frequency: 0.00001  dbSNP: rs751729992

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163464	SCV000214015	likely benign	Hereditary cancer-predisposing syndrome	2014-10-29	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	RCV000197563	SCV000252921	likely benign	Familial adenomatous polyposis 1	2025-01-22	criteria provided, single submitter	clinical testing
Counsyl	RCV000197563	SCV000487852	likely benign	Familial adenomatous polyposis 1	2015-11-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000679059	SCV000729039	likely benign	not provided	2019-09-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679059	SCV000805406	likely benign	not provided	2017-05-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163464	SCV000905982	likely benign	Hereditary cancer-predisposing syndrome	2018-06-25	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163464	SCV002536237	likely benign	Hereditary cancer-predisposing syndrome	2020-09-17	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000197563	SCV004018722	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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000163464	SCV005688838	likely benign	Hereditary cancer-predisposing syndrome	2025-01-27	criteria provided, single submitter	clinical testing	The synonymous variant NM_000038.6(APC):c.4005C>T (p.Ser1335=) has been reported to ClinVar as Benign/Likely benign with a status of (2 stars) criteria provided, multiple submitters, no conflicts (Variation ID 184249 as of 2025-01-02). The p.Ser1335= variant is not predicted to disrupt an existing splice site. For these reasons, this variant has been classified as Likely Benign.