Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231815 | SCV001404347 | pathogenic | Li-Fraumeni syndrome | 2022-02-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 958618). This premature translational stop signal has been observed in individual(s) with clinical features of Li-Fraumeni syndrome (PMID: 9723024, 21305319). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser241Profs*6) 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). For these reasons, this variant has been classified as Pathogenic. |