ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1572G>T (p.Arg524=)

dbSNP: rs771419468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012210 SCV001172636 likely benign Hereditary cancer-predisposing syndrome 2019-02-23 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 RCV001469783 SCV001673871 likely benign Hereditary diffuse gastric adenocarcinoma 2022-09-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001012210 SCV002529078 likely benign Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV001469783 SCV005404465 benign Hereditary diffuse gastric adenocarcinoma 2024-09-19 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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