ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.848_857del (p.Arg283fs)

dbSNP: rs1555525170
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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 RCV000552974 SCV000629877 pathogenic Li-Fraumeni syndrome 2017-04-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 10 nucleotides from exon 8 of the TP53 mRNA (c.848_857delGCACAGAGGA), causing a frameshift at codon 283. This creates a premature translational stop signal (p.Arg283Glnfs*59) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432).

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