ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)

dbSNP: rs878854683
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233310 SCV000288458 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000287743 SCV000329235 uncertain significance not provided 2023-10-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15235021, 22850631)
Counsyl RCV000233310 SCV000489019 uncertain significance Hereditary diffuse gastric adenocarcinoma 2016-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564966 SCV000661627 likely benign Hereditary cancer-predisposing syndrome 2024-09-10 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000287743 SCV001134075 uncertain significance not provided 2023-06-17 criteria provided, single submitter clinical testing This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194011 SCV001363235 uncertain significance not specified 2023-03-17 criteria provided, single submitter clinical testing Variant summary: CDH1 c.2282_2284delGAG (p.Gly761del) results in an in-frame deletion that is predicted to remove a Gly amino acid from the encoded protein. The variant was absent in 251468 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2282_2284delGAG in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Myriad Genetics, Inc. RCV000233310 SCV004019552 likely benign Hereditary diffuse gastric adenocarcinoma 2023-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
Baylor Genetics RCV004567739 SCV005060078 uncertain significance Familial cancer of breast 2024-02-19 criteria provided, single submitter clinical testing

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