Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001049836 | SCV001213909 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2019-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro127Alafs*41) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). |
Sema4, |
RCV002256660 | SCV002529176 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-09 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256660 | SCV002625761 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-08 | criteria provided, single submitter | clinical testing | The c.377dupC pathogenic mutation, located in coding exon 3 of the CDH1 gene, results from a duplication of C at nucleotide position 377, causing a translational frameshift with a predicted alternate stop codon (p.P127Afs*41). 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. |
Myriad Genetics, |
RCV001049836 | SCV004043532 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-06-08 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |