Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
European Reference Network on Genetic Tumour Risk Syndromes |
RCV003229736 | SCV003926937 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PM2; BS2_Supporting (PMID: 30311375) |
Labcorp Genetics |
RCV003229736 | SCV004248392 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 28 of the CDH1 protein (p.Cys28Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 36436516). ClinVar contains an entry for this variant (Variation ID: 2503002). 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. |
Gene |
RCV004765780 | SCV005379690 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in several unrelated individuals with a personal or family history of breast and other cancers (PMID: 36436516); This variant is associated with the following publications: (PMID: 36436516, 15235021) |