Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000214986 | SCV000279930 | uncertain significance | not provided | 2024-05-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15235021, 22850631) |
| Labcorp Genetics |
RCV000639236 | SCV000760806 | benign | Hereditary diffuse gastric adenocarcinoma | 2021-10-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001018797 | SCV001180074 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-04 | criteria provided, single submitter | clinical testing | The p.T303A variant (also known as c.907A>G), located in coding exon 7 of the CDH1 gene, results from an A to G substitution at nucleotide position 907. The threonine at codon 303 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV001018797 | SCV001349641 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-22 | criteria provided, single submitter | clinical testing | This missense variant replaces threonine with alanine at codon 303 of the CDH1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251470 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. |