Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328408 | SCV001365454 | pathogenic | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-25 | reviewed by expert panel | curation | The c.480_486delinsAGAATA p.(Ile161Glufs*54) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). The variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; SCV000661678.2). In summary, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PVS1, PM2_Supporting, PS4_Supporting, PM5_Supporting. |
Ambry Genetics | RCV000563868 | SCV000661678 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-03-21 | criteria provided, single submitter | clinical testing | The c.480_486delCATCAGCinsAGAATA pathogenic mutation, located in coding exon 4 of the CDH1 gene, results from the deletion of 7 nucleotides and insertion of 6 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.I161Efs*54). 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, |
RCV003335486 | SCV004043034 | 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. |