ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.499C>T (p.Gln167Ter) (rs1555526097)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633353 SCV000754575 pathogenic Li-Fraumeni syndrome 2017-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln167*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657587 SCV000779324 pathogenic not provided 2018-08-06 criteria provided, single submitter clinical testing This pathogenic variant is denoted TP53 c.499C>T at the cDNA level and p.Gln167Ter (Q167X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, it is considered pathogenic.
Counsyl RCV000663165 SCV000786324 likely pathogenic Li-Fraumeni syndrome 1 2018-04-06 criteria provided, single submitter clinical testing

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