ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.112del (p.Gln38fs)

dbSNP: rs1555526795
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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 RCV000544374 SCV000629776 pathogenic Li-Fraumeni syndrome 2017-08-16 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the TP53 mRNA (c.112delC), causing a frameshift at codon 38. This creates a premature translational stop signal (p.Gln38Lysfs*6) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature as a germline variant, loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic.

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