Submissions for variant NM_004360.5(CDH1):c.2091G>A (p.Lys697=)

gnomAD frequency: 0.00001  dbSNP: rs61747635

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212380	SCV000210882	benign	not specified	2014-08-04	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.
Ambry Genetics	RCV000160373	SCV000214470	likely benign	Hereditary cancer-predisposing syndrome	2014-12-11	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	RCV001078916	SCV000637772	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-10-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000160373	SCV000684396	likely benign	Hereditary cancer-predisposing syndrome	2017-06-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000555817	SCV001150956	likely benign	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212380	SCV001362041	likely benign	not specified	2020-01-31	criteria provided, single submitter	clinical testing
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	RCV001078916	SCV003926889	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	PS4_Supporting (PMID: 30311375)
PreventionGenetics, part of Exact Sciences	RCV003907492	SCV004718995	likely benign	CDH1-related disorder	2019-07-30	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).