Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001224024 | SCV001396198 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2020-01-11 | criteria provided, single submitter | clinical testing | 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 been reported to affect CDH1 protein function (PMID: 16924464, 19268661). This variant has been observed in individuals affected with hereditary diffuse gastric cancer (PMID: 16924464, 28688938, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 214 of the CDH1 protein (p.Leu214Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV001224024 | SCV003926669 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PS4_Supporting; PM2 (PMID: 30311375) |