ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.716_721del (p.Asn239_Ser241delinsThr)

dbSNP: rs1597364867
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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 RCV000798281 SCV000937888 pathogenic Li-Fraumeni syndrome 2023-07-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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.Ser241Tyr) have been determined to be pathogenic (PMID: 23259501, 25584008, 28279309). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 644381). This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant, c.716_721del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the TP53 protein (p.Asn239_Ser241delinsThr).

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