ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.112C>T (p.Gln38Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004440023 SCV004933311 pathogenic Li-Fraumeni syndrome 1 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104629 SCV005839219 pathogenic Li-Fraumeni syndrome 2024-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln38*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with TP53-related conditions (PMID: 20805372). For these reasons, this variant has been classified as Pathogenic.

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