Submissions for variant NM_004360.5(CDH1):c.1173C>T (p.Val391=)

gnomAD frequency: 0.00003  dbSNP: rs148080550

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000123231	SCV000166537	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-28	criteria provided, single submitter	clinical testing
Counsyl	RCV000123231	SCV000488087	likely benign	Hereditary diffuse gastric adenocarcinoma	2015-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001704045	SCV000518476	likely benign	not provided	2020-11-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25032700)
Ambry Genetics	RCV000564156	SCV000661615	likely benign	Hereditary cancer-predisposing syndrome	2015-06-02	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	RCV000564156	SCV000684335	likely benign	Hereditary cancer-predisposing syndrome	2016-11-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564156	SCV002531146	likely benign	Hereditary cancer-predisposing syndrome	2021-11-14	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149841	SCV003838415	likely benign	Breast and/or ovarian cancer	2022-06-02	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000123231	SCV004020018	benign	Hereditary diffuse gastric adenocarcinoma	2023-03-06	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	RCV001704045	SCV004220778	benign	not provided	2023-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905180	SCV004722518	likely benign	CDH1-related disorder	2019-08-01	criteria provided, single submitter	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).