Total submissions: 3
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. |
Gene |
RCV001558305 | SCV001780219 | likely benign | not provided | 2022-05-06 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Myriad Genetics, |
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. |