ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.49-4C>G

dbSNP: rs1057520916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434253 SCV001637058 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341948 SCV002643911 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-28 criteria provided, single submitter clinical testing The c.49-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 2 in the CDH1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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