ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.272G>A (p.Trp91Ter)

dbSNP: rs2073465664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258110 SCV001434975 likely pathogenic Li-Fraumeni syndrome 2018-10-08 criteria provided, single submitter clinical testing This c.272G>A (p.Trp91*) variant in the TP53 gene is predicted to introduce a premature translational termination codon. This variant has been reported as a somatic change in multiple tumor tissues in the COSMIC Database. It has not been reported before in patients or in the general population according to genomAD. Therefore, this c.272G>A (p.Trp91*) variant in the TP53 gene is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001258110 SCV003787079 pathogenic Li-Fraumeni syndrome 2024-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp91*) 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 clinical features of TP53-related conditions (PMID: 31060593). ClinVar contains an entry for this variant (Variation ID: 979079). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473842 SCV004204280 pathogenic Adrenocortical carcinoma, hereditary 2022-05-05 criteria provided, single submitter clinical testing

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