ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.569_586del (p.Pro190_Ile195del)

dbSNP: rs2073341609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220073 SCV001392046 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, c.569_586del, results in the deletion of 6 amino acid(s) of the TP53 protein (p.Pro190_Ile195del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 948754). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the TP53 protein in which other variant(s) (p.Pro190Leu) have been determined to be pathogenic (PMID: 32658383; 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.

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