ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.128del (p.Asp42_Leu43insTer)

dbSNP: rs2073485631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209064 SCV001380483 pathogenic Li-Fraumeni syndrome 2024-05-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu43*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). 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: 939637). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002379791 SCV002694111 pathogenic Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter clinical testing The c.128delT pathogenic mutation, located in coding exon 3 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 128, causing a translational frameshift with a predicted alternate stop codon (p.L43*). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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