Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328386 | SCV001244350 | pathogenic | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-25 | reviewed by expert panel | curation | The c.1612delG p.(Asp538Thrfs) 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; PMID: 29131691). 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. |
Immunopatologia e Biomarcatori Oncologici/Bio- |
RCV000504654 | SCV000588228 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2017-01-02 | criteria provided, single submitter | research | age<50 years, diffuse type, male, clinical aggressive form |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000504654 | SCV003926823 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PVS1; PS4_Supporting; PM2 (PMID: 30311375) |