Submissions for variant NM_004360.5(CDH1):c.1023T>C (p.Tyr341=)

gnomAD frequency: 0.00004  dbSNP: rs587776398

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229435	SCV000288414	likely benign	Hereditary diffuse gastric adenocarcinoma	2025-01-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000229435	SCV000398560	likely benign	Hereditary diffuse gastric adenocarcinoma	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV000563222	SCV000669005	likely benign	Hereditary cancer-predisposing syndrome	2016-03-01	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	RCV000563222	SCV000689429	likely benign	Hereditary cancer-predisposing syndrome	2015-08-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000614960	SCV000718956	likely benign	not specified	2017-04-27	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.
Myriad Genetics, Inc.	RCV000229435	SCV005406851	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-17	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000614960	SCV005872286	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing