Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328237 | SCV001142240 | pathogenic | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-29 | reviewed by expert panel | curation | The c.1023T>G (p.Tyr341*) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). The variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; PMID: 27192129). 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. |
Laboratório de Genética Humana e Médica, |
RCV000144456 | SCV000189522 | pathogenic | Hereditary diffuse gastric adenocarcinoma | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |