ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)

gnomAD frequency: 0.00001  dbSNP: rs115408226
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212379 SCV000210925 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 29156750)
Ambry Genetics RCV000160396 SCV000213717 likely benign Hereditary cancer-predisposing syndrome 2021-11-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000168234 SCV000218903 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000168234 SCV000785806 uncertain significance Hereditary diffuse gastric adenocarcinoma 2017-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212379 SCV000888028 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160396 SCV000903422 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-05 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 676 of the CDH1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer in the literature (PMID: 25186627). This variant has been identified in 6/282868 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV000168234 SCV003926879 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing Not applicable criteria (PMID: 30311375)
Myriad Genetics, Inc. RCV000168234 SCV004019587 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-03-06 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Baylor Genetics RCV003462089 SCV004215640 uncertain significance Familial cancer of breast 2024-01-15 criteria provided, single submitter clinical testing

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