Submissions for variant NM_000038.6(APC):c.573T>C (p.Tyr191=)

gnomAD frequency: 0.00008  dbSNP: rs185154886

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004020440	SCV000252589	benign	Familial adenomatous polyposis 1	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309947	SCV000451983	likely benign	APC-Associated Polyposis Disorders	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001701788	SCV000516690	likely benign	not provided	2019-12-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26447891, 27028212, 26900293)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000426052	SCV000600118	likely benign	not specified	2017-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573062	SCV000667229	likely benign	Hereditary cancer-predisposing syndrome	2015-01-05	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	RCV000573062	SCV000681759	benign	Hereditary cancer-predisposing syndrome	2016-03-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000573062	SCV002535774	likely benign	Hereditary cancer-predisposing syndrome	2021-07-16	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002478697	SCV002797292	likely benign	Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach	2022-05-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701788	SCV003916965	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	APC: BP4, BS1
Myriad Genetics, Inc.	RCV004020440	SCV004931783	benign	Familial adenomatous polyposis 1	2024-02-23	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.	RCV000573062	SCV005045449	benign	Hereditary cancer-predisposing syndrome	2024-03-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701788	SCV001930653	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000426052	SCV001970867	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947643	SCV004761898	benign	APC-related disorder	2019-10-16	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).