ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.645_647del (p.Ser215_Val216delinsArg)

dbSNP: rs2151026393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002166 SCV002223956 pathogenic Li-Fraumeni syndrome 2023-07-14 criteria provided, single submitter clinical testing 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.Val216Met) have been determined to be pathogenic (PMID: 26014290; 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1448137). 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 variant, c.645_647del, results in the deletion of 2 amino acids and the insertion of 1 amnio acid of the TP53 protein (p.Ser215_Val216delinsArg), but otherwise preserves the integrity of the reading frame.

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