Submissions for variant NM_004360.5(CDH1):c.2358C>T (p.Asp786=)

gnomAD frequency: 0.00001  dbSNP: rs760701558

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000419561	SCV000527618	likely benign	not specified	2017-10-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989626	SCV000557415	benign	Hereditary diffuse gastric adenocarcinoma	2024-01-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571098	SCV000669012	likely benign	Hereditary cancer-predisposing syndrome	2015-11-23	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	RCV000571098	SCV000684427	likely benign	Hereditary cancer-predisposing syndrome	2016-04-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679571	SCV000806659	likely benign	not provided	2017-06-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000989626	SCV001140150	likely benign	Hereditary diffuse gastric adenocarcinoma	2019-05-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502552	SCV002810083	likely benign	Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate	2022-05-13	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000989626	SCV005405612	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.