ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.375C>A (p.Pro125=)

gnomAD frequency: 0.00004  dbSNP: rs773044699
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000759732 SCV000520398 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26123647)
Ambry Genetics RCV000563500 SCV000665281 likely benign Hereditary cancer-predisposing syndrome 2015-09-18 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 RCV000563500 SCV000689530 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989618 SCV000760868 likely benign Hereditary diffuse gastric adenocarcinoma 2023-11-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759732 SCV000889259 likely benign not provided 2023-09-12 criteria provided, single submitter clinical testing
Mendelics RCV000989618 SCV001140131 likely benign Hereditary diffuse gastric adenocarcinoma 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000437491 SCV001339071 likely benign not specified 2020-03-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563500 SCV002529175 benign Hereditary cancer-predisposing syndrome 2021-04-08 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000989618 SCV005403514 benign Hereditary diffuse gastric adenocarcinoma 2024-09-12 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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