Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000463675 | SCV000545377 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2018-10-01 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDH1-related disease. This sequence change replaces tyrosine with aspartic acid at codon 68 of the CDH1 protein (p.Tyr68Asp). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. |
Ambry Genetics | RCV000566254 | SCV000666303 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-06 | criteria provided, single submitter | clinical testing | The p.Y68D variant (also known as c.202T>G), located in coding exon 3 of the CDH1 gene, results from a T to G substitution at nucleotide position 202. The tyrosine at codon 68 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
Fulgent Genetics, |
RCV002480372 | SCV002788216 | uncertain significance | Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate | 2022-04-27 | criteria provided, single submitter | clinical testing |