Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001208476 | SCV001379867 | uncertain significance | Li-Fraumeni syndrome | 2021-06-25 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 329 of the TP53 protein (p.Thr329Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant has been reported to have conflicting or insufficient data to determine the effect on TP53 protein function (PMID: 24733378, 9582268, 10329187, 9367778). 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. |
| Ambry Genetics | RCV002379789 | SCV002695766 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |