Submissions for variant NM_004360.5(CDH1):c.2322G>A (p.Arg774=)

gnomAD frequency: 0.00001  dbSNP: rs150734856

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164182	SCV000214802	likely benign	Hereditary cancer-predisposing syndrome	2015-03-10	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	RCV001082617	SCV000288459	likely benign	Hereditary diffuse gastric adenocarcinoma	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000427804	SCV000518376	benign	not specified	2015-09-04	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.
Genetic Services Laboratory, University of Chicago	RCV000427804	SCV000593914	likely benign	not specified	2017-01-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164182	SCV000689511	likely benign	Hereditary cancer-predisposing syndrome	2017-11-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000427804	SCV000698382	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000590760	SCV000889248	likely benign	not provided	2022-09-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164182	SCV002529124	likely benign	Hereditary cancer-predisposing syndrome	2020-12-08	criteria provided, single submitter	curation
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	RCV001082617	SCV003926925	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	PS4_Supporting; PM2 (PMID: 30311375)
Myriad Genetics, Inc.	RCV001082617	SCV005405264	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-23	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.
PreventionGenetics, part of Exact Sciences	RCV003965205	SCV004782193	likely benign	CDH1-related disorder	2022-07-06	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).