Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000475260 | SCV000545413 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-11-09 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the CDH1 mRNA. It is expected to extend the length of the CDH1 protein by 29 additional amino acid residues. 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: 406638). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Ambry Genetics | RCV000563805 | SCV000666300 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-09 | criteria provided, single submitter | clinical testing | The c.2647T>C variant (also known as p.*883QEXT*29), located in coding exon 16 of the CDH1 gene, results from a T to C substitution at nucleotide position 2647. The stop codon at position 883 is replaced by glutamine, resulting in an elongation of the protein by 29 amino acids (QGTRERRAPDPCAGKCRNHVAGGFSAPFP). The exact functional impact of these added amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV000563805 | SCV001356448 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-15 | criteria provided, single submitter | clinical testing | This variant causes a T to C nucleotide substitution at nucleotide position 2647 and replaces the stop codon at position 883 with glutamine, resulting in an elongation of the protein by 29 amino acids. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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. |
| Gene |
RCV001813778 | SCV002061071 | uncertain significance | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | Normal stop codon changed to a leucine codon, leading to the addition of 29 amino acids at the C-terminus; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 30311375, 15235021, 22850631) |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001813778 | SCV002774520 | uncertain significance | not provided | 2021-08-04 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003463874 | SCV004215618 | uncertain significance | Familial cancer of breast | 2023-10-09 | criteria provided, single submitter | clinical testing |