Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000564948 | SCV000669028 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-17 | criteria provided, single submitter | clinical testing | The p.N371S variant (also known as c.1112A>G), located in coding exon 8 of the CDH1 gene, results from an A to G substitution at nucleotide position 1112. The asparagine at codon 371 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Baylor Genetics | RCV003459351 | SCV004215719 | uncertain significance | Familial cancer of breast | 2024-02-11 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003624417 | SCV004509427 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 371 of the CDH1 protein (p.Asn371Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with colon cancer (PMID: 30730459). ClinVar contains an entry for this variant (Variation ID: 483234). 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. |