ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.716del (p.Asn239fs)

dbSNP: rs1060501197
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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 RCV000460136 SCV000545308 pathogenic Li-Fraumeni syndrome 2016-10-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This sequence change deletes 1 nucleotide from exon 7 of the TP53 mRNA (c.716delA), causing a frameshift at codon 239. This creates a premature translational stop signal (p.Asn239Thrfs*8) and is expected to result in an absent or disrupted protein product.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813099 SCV005438483 pathogenic Adrenocortical carcinoma, hereditary 2024-12-18 criteria provided, single submitter clinical testing

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