ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.343del (p.His115fs)

dbSNP: rs2073453049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179140 SCV001343748 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 4 of the TP53 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of TP53 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005093810 SCV005763151 pathogenic Li-Fraumeni syndrome 2024-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His115Ilefs*8) 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: 920389). For these reasons, this variant has been classified as Pathogenic.

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