ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2136G>T (p.Gly712=)

gnomAD frequency: 0.00006  dbSNP: rs763402728
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463926 SCV000545480 likely benign Hereditary diffuse gastric adenocarcinoma 2024-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573540 SCV000661611 likely benign Hereditary cancer-predisposing syndrome 2015-05-08 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 RCV000573540 SCV000908756 likely benign Hereditary cancer-predisposing syndrome 2018-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001653825 SCV001861660 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573540 SCV002529108 likely benign Hereditary cancer-predisposing syndrome 2020-10-01 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 RCV000463926 SCV003926897 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing Not applicable criteria (PMID: 30311375)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230497 SCV003929362 likely benign not specified 2023-04-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001653825 SCV004140033 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing CDH1: BP4, BP7
Myriad Genetics, Inc. RCV000463926 SCV005405075 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.

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