Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003064355 | SCV003443629 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro201Argfs*7) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary diffuse gastric cancer (PMID: 24389957). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2137843). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003138469 | SCV003823048 | likely pathogenic | not provided | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003064355 | SCV004042966 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-06-09 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Department of Clinical Genetics, |
RCV003064355 | SCV005685087 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2025-01-10 | criteria provided, single submitter | clinical testing | The following ACMG criteria was used: PVS1; PM2_SUP; PP1 |