Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000773621 | SCV000907315 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 10 of the CDH1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of CDH1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Labcorp Genetics |
RCV001215396 | SCV001387138 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2019-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary diffuse gastric cancer (PMID: 28460635). Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This sequence change creates a premature translational stop signal (p.Pro461Leufs*20) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV001215396 | SCV004042884 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-06-13 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Ambry Genetics | RCV000773621 | SCV005022299 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | The c.1380delA pathogenic mutation, located in coding exon 10 of the CDH1 gene, results from a deletion of one nucleotide at nucleotide position 1380, causing a translational frameshift with a predicted alternate stop codon (p.P461Lfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |