Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003509690 | SCV004248552 | pathogenic | Li-Fraumeni syndrome | 2023-06-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1319403). This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile50Asnfs*2) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). |
| Institute for Clinical Genetics, |
RCV003238700 | SCV002009076 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
| de |
RCV003485730 | SCV004022265 | likely pathogenic | Li-Fraumeni syndrome 1 | 2023-07-21 | no assertion criteria provided | research | The variant NM_000546.6:c.148dup (chr17:7676220) in TP53 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. |