Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000709391 | SCV000839070 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000732057 | SCV000859938 | uncertain significance | not provided | 2018-03-09 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000709391 | SCV001510260 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 10 of the CDH1 protein (p.Ala10Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584912). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Gene |
RCV000732057 | SCV002013581 | uncertain significance | not provided | 2020-01-24 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV002440560 | SCV002746980 | likely benign | Hereditary cancer-predisposing syndrome | 2024-05-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |