Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328434 | SCV001142261 | pathogenic | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-29 | reviewed by expert panel | curation | The c.2100del p.(Val701Serfs) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). The variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; PMID: 26182300). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). 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. |
Invitae | RCV000639209 | SCV000760779 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2022-09-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 492677). This premature translational stop signal has been observed in individual(s) with hereditary diffuse gastric cancer (PMID: 26182300). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val701Serfs*21) 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, |
RCV000639209 | SCV004043677 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2023-06-15 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Mayo Clinic Laboratories, |
RCV000583312 | SCV000691827 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Department of Pathology and Laboratory Medicine, |
RCV000583312 | SCV001548788 | uncertain significance | not provided | no assertion criteria provided | clinical testing |