Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001344556 | SCV001538616 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2020-01-24 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). 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. This variant has not been reported in the literature in individuals with CDH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 483 of the CDH1 protein (p.Ala483Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
Ambry Genetics | RCV004601464 | SCV005095437 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-25 | criteria provided, single submitter | clinical testing | The p.A483V variant (also known as c.1448C>T), located in coding exon 10 of the CDH1 gene, results from a C to T substitution at nucleotide position 1448. The alanine at codon 483 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |