ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.*8G>A

gnomAD frequency: 0.00011  dbSNP: rs201223411
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198728 SCV000253405 likely benign Hereditary diffuse gastric adenocarcinoma 2015-03-27 criteria provided, single submitter clinical testing
Counsyl RCV000198728 SCV000488334 uncertain significance Hereditary diffuse gastric adenocarcinoma 2016-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000996294 SCV000600949 likely benign not provided 2023-06-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580435 SCV000684318 likely benign Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000996294 SCV001945494 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV000198728 SCV003926978 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing BS2_Supporting (PMID: 30311375)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003491939 SCV004240417 likely benign Breast and/or ovarian cancer 2022-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927855 SCV004739489 likely benign CDH1-related disorder 2020-06-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV000580435 SCV004848949 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-20 criteria provided, single submitter clinical testing The c.*8G>A alteration is located in the 3' untranslated region (3'UTR) of the CDH1 gene. This alteration consists of a deletion of 1 nucleotides after the last coding exon of the CDH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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