Submissions for variant NM_004360.5(CDH1):c.2205G>A (p.Ala735=)

dbSNP: rs138493551

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163159	SCV000213676	likely benign	Hereditary cancer-predisposing syndrome	2015-11-20	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	RCV000195641	SCV000253418	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163159	SCV000684408	likely benign	Hereditary cancer-predisposing syndrome	2017-03-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001610470	SCV001842250	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798572	SCV002043264	likely benign	Breast and/or ovarian cancer	2020-03-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163159	SCV002529114	likely benign	Hereditary cancer-predisposing syndrome	2021-08-26	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	RCV000195641	SCV003926906	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	Not applicable criteria (PMID: 30311375)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001610470	SCV004220815	likely benign	not provided	2023-09-12	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000195641	SCV005405272	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-20	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.