Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002375950 | SCV002684509 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-28 | criteria provided, single submitter | clinical testing | The c.885delC variant, located in coding exon 7 of the CDH1 gene, results from a deletion of one nucleotide at nucleotide position 885, causing a translational frameshift with a predicted alternate stop codon (p.Y296Tfs*60). 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. |
Labcorp Genetics |
RCV003100044 | SCV003218017 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2022-06-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr296Thrfs*60) 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). |
Myriad Genetics, |
RCV003100044 | SCV004043028 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-06-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |