Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001982497 | SCV002223389 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-12-08 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 622 of the CDH1 protein (p.Asn622Tyr). This variant is present in population databases (rs367849039, gnomAD 0.0009%). 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: 1444594). 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 disruptive. 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 | RCV002407148 | SCV002719907 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-23 | criteria provided, single submitter | clinical testing | The p.N622Y variant (also known as c.1864A>T), located in coding exon 12 of the CDH1 gene, results from an A to T substitution at nucleotide position 1864. The asparagine at codon 622 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003464276 | SCV004215738 | uncertain significance | Familial cancer of breast | 2023-05-09 | criteria provided, single submitter | clinical testing |