ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.*3G>C

gnomAD frequency: 0.00001  dbSNP: rs753123245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571884 SCV000675989 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing The c.*3G>C variant is located in the 3' untranslated region (3’ UTR) of the CDH1 gene. This variant results from a G to C substitution 3 nucleotides after the termination codon of the CDH1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0004% (greater than 240000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001558305 SCV001780219 likely benign not provided 2022-05-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Myriad Genetics, Inc. RCV004787964 SCV005406883 benign Hereditary diffuse gastric adenocarcinoma 2024-09-25 criteria provided, single submitter clinical testing This variant is considered benign. This variant occurs in the non-coding 3' untranslated region of the gene, and is not expected to impact protein function.

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