ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.388-3T>C

dbSNP: rs112139520
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563532 SCV000661658 likely benign Hereditary cancer-predisposing syndrome 2020-02-07 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 RCV000563532 SCV004360445 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-06 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the -3 position of intron 3 of the CDH1 gene. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with CDH1-related disorders in the literature. This variant has not been identified 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767102 SCV004623234 likely benign Hereditary diffuse gastric adenocarcinoma 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701656 SCV005205183 uncertain significance not specified 2024-06-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003767102 SCV005404298 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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