Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000796121 | SCV000935618 | uncertain significance | Li-Fraumeni syndrome | 2024-03-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 16 of the TP53 protein (p.Gln16His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 642623). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is not expected to disrupt TP53 function with a negative predictive value of 97.5%. Experimental studies have shown that this missense change does not substantially affect TP53 function (PMID: 12826609). 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. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV003141781 | SCV003807552 | uncertain significance | Li-Fraumeni syndrome 1 | 2022-07-05 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 supporting |
| Baylor Genetics | RCV003467353 | SCV004206228 | uncertain significance | Adrenocortical carcinoma, hereditary | 2023-09-27 | criteria provided, single submitter | clinical testing |