Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001360450 | SCV001556366 | uncertain significance | Li-Fraumeni syndrome | 2021-05-13 | 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 and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the TP53 gene (p.Lys373Argfs*49). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acids of the TP53 protein and extend the protein by an additional 28 amino acids. |
University Health Network, |
RCV001527466 | SCV001738481 | pathogenic | Familial cancer of breast; Classic Hodgkin lymphoma; Neoplasm of ovary; Thyroid cancer, nonmedullary, 1 | 2021-03-19 | no assertion criteria provided | clinical testing |