ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.759C>T (p.Thr253=)

gnomAD frequency: 0.00003  dbSNP: rs372934565
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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 RCV000204670 SCV000261124 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000418885 SCV000512511 likely benign not specified 2017-06-28 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.
Ambry Genetics RCV000571842 SCV000661651 likely benign Hereditary cancer-predisposing syndrome 2016-07-08 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 RCV000571842 SCV000684482 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284470 SCV001470284 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571842 SCV002529210 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 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 RCV000204670 SCV003926686 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing BP7 (PMID: 30311375)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316139 SCV004017009 likely benign Malignant tumor of prostate 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000204670 SCV005405309 benign Hereditary diffuse gastric adenocarcinoma 2024-09-16 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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