Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462351 | SCV000545314 | uncertain significance | Li-Fraumeni syndrome | 2016-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with aspartic acid at codon 205 of the TP53 protein (p.Tyr205Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in the germline of individuals with a TP53-related disease, but has been reported as a somatic variant in multiple tumor samples (PMID: 24009708, 17062677, 19064568, 23474753, 24091621). Experimental studies have shown that this variant disrupts TP53 transactivation activity in yeast-based assays (PMID: 12826609). In summary, this variant is a rare missense change that disrupts protein function in vitro. However, the evidence is insufficient at this time to prove its clinical significance conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |
Counsyl | RCV000663307 | SCV000786563 | uncertain significance | Li-Fraumeni syndrome 1 | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Database of Curated Mutations |
RCV000430021 | SCV000510193 | likely pathogenic | Ovarian Serous Cystadenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439865 | SCV000510194 | likely pathogenic | Squamous cell lung carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419128 | SCV000510195 | likely pathogenic | Pancreatic adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428939 | SCV000510196 | likely pathogenic | Squamous cell carcinoma of the head and neck | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439629 | SCV000510197 | likely pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421350 | SCV000510198 | likely pathogenic | Multiple myeloma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428535 | SCV000510199 | likely pathogenic | Breast neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438356 | SCV000510200 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421137 | SCV000510201 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000434446 | SCV000510202 | likely pathogenic | Hepatocellular carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000444873 | SCV000510203 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000423676 | SCV000510204 | likely pathogenic | Non-Hodgkin lymphoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000434351 | SCV000510205 | likely pathogenic | Uterine Carcinosarcoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000444122 | SCV000510206 | likely pathogenic | Carcinoma of esophagus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000426948 | SCV000510207 | likely pathogenic | Renal cell carcinoma, papillary, 1 | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000436740 | SCV000510208 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only |