ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.708_713del (p.Met237_Cys238del)

dbSNP: rs2073260066
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Total submissions: 1
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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.

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