ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.97-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791520 SCV000930773 likely pathogenic Li-Fraumeni syndrome 2018-12-31 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the TP53 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with osteosarcoma (PMID: 9242456). This variant is also known as Intron 3 Acceptor ag->aa in the literature. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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