Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177226 | SCV001341401 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-30 | criteria provided, single submitter | clinical testing | This missense variant replaces histidine with asparagine at codon 368 of the TP53 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Invitae | RCV001875840 | SCV002221663 | uncertain significance | Li-Fraumeni syndrome | 2021-04-21 | 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. Experimental studies have shown that this variant does not substantially affect TP53 protein function (PMID: 12826609, 30224644). This variant has not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 919211). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with asparagine at codon 368 of the TP53 protein (p.His368Asn). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and asparagine. |
Genome- |
RCV002290612 | SCV002582457 | uncertain significance | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001177226 | SCV002583204 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing |