ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.48+6_48+8delinsTCA

dbSNP: rs2152113992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524746 SCV001734689 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-07 criteria provided, single submitter clinical testing This variant causes replaces CCG nucleotides at the +6_+8 position in intron 1 of the CDH1 gene with TCA nucleotides. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer 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.
Myriad Genetics, Inc. RCV004789647 SCV005404370 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-10 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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