Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000212366 | SCV000149748 | uncertain significance | not provided | 2021-11-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in an individual with a personal and family history of prostate cancer (Leongamornlert 2014); This variant is associated with the following publications: (PMID: 24556621, 15235021, 22850631) |
| Invitae | RCV000123235 | SCV000166541 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000115839 | SCV000186103 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Color Diagnostics, |
RCV000115839 | SCV000684353 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-22 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with alanine at codon 445 of the CDH1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CDH1-related disorders in the literature. This variant has been identified in 4/282852 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Baylor Genetics | RCV003460830 | SCV004215653 | uncertain significance | Familial cancer of breast | 2023-09-01 | criteria provided, single submitter | clinical testing | |
| True Health Diagnostics | RCV000115839 | SCV000787975 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-09-11 | no assertion criteria provided | clinical testing |