Submissions for variant NM_004360.5(CDH1):c.2232A>G (p.Pro744=)

dbSNP: rs879026401

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000772244	SCV000905362	likely benign	Hereditary cancer-predisposing syndrome	2018-03-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000772244	SCV001175655	likely benign	Hereditary cancer-predisposing syndrome	2018-01-16	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	RCV001410079	SCV001612121	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-07-11	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798974	SCV002043267	likely benign	Breast and/or ovarian cancer	2020-02-21	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001410079	SCV005405549	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.