Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001804275 | SCV002052251 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-12 | criteria provided, single submitter | clinical testing | This missense variant replaces histidine with glutamine at codon 29 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 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. |
| Labcorp Genetics |
RCV001869502 | SCV002152982 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-05-17 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 1331759). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 29 of the CDH1 protein (p.His29Gln). |
| Ambry Genetics | RCV001804275 | SCV004057715 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-02 | criteria provided, single submitter | clinical testing | The p.H29Q variant (also known as c.87C>A), located in coding exon 2 of the CDH1 gene, results from a C to A substitution at nucleotide position 87. The histidine at codon 29 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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. |