ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.448_460del (p.Thr150fs) (rs1064792930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475282 SCV000545353 pathogenic Li-Fraumeni syndrome 2016-11-30 criteria provided, single submitter clinical testing This sequence change deletes 13 nucleotides from exon 5 of the TP53 mRNA (c.448_460del), causing a frameshift at codon 150. This creates a premature translational stop signal (p.Thr150Alafs*16) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic. This particular variant has been reported in an individual with breast cancer and a family history of early-onset cancers (PMID: 19250386). It is also known as 13127del13 in the literature. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000582435 SCV000692087 likely pathogenic not provided no assertion criteria provided clinical testing

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