Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206316 | SCV001377618 | pathogenic | Li-Fraumeni syndrome | 2023-07-14 | criteria provided, single submitter | clinical testing | 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: 937331). This variant disrupts a region of the TP53 protein in which other variant(s) (p.Met237Ile) have been determined to be pathogenic (PMID: 11370630, 17606709, 21343334; 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. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This variant, c.708_713del, results in the deletion of 2 amino acid(s) of the TP53 protein (p.Met237_Cys238del), but otherwise preserves the integrity of the reading frame. |