Submissions for variant NM_000038.6(APC):c.6453A>C (p.Thr2151=)

dbSNP: rs1057524298

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721462	SCV000535115	likely benign	not provided	2018-12-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003766447	SCV000562678	likely benign	Familial adenomatous polyposis 1	2025-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562381	SCV000667313	likely benign	Hereditary cancer-predisposing syndrome	2015-06-01	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.
Color Diagnostics, LLC DBA Color Health	RCV000562381	SCV000681799	likely benign	Hereditary cancer-predisposing syndrome	2016-09-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003387845	SCV004099580	likely benign	not specified	2023-09-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000566	SCV004840352	likely benign	Classic or attenuated familial adenomatous polyposis	2023-12-13	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003766447	SCV005085588	benign	Familial adenomatous polyposis 1	2024-04-04	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001721462	SCV005625622	uncertain significance	not provided	2024-06-26	criteria provided, single submitter	clinical testing	The APC c.6453A>C (p.Thr2151=) synonymous variant has not been reported in individuals with APC-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect APC mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences	RCV003942456	SCV004762247	likely benign	APC-related disorder	2022-10-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).