Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225317 | SCV001397593 | pathogenic | Li-Fraumeni syndrome | 2023-07-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 953078). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TP53 protein in which other variant(s) (p.Phe113Leu) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has been observed in individual(s) with clinical features of Li-Fraumeni syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.324_335del, results in the deletion of 4 amino acid(s) of the TP53 protein (p.Arg110_Phe113del), but otherwise preserves the integrity of the reading frame. |