ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1101-1G>A (rs876658982)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222547 SCV000274903 likely pathogenic Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000466199 SCV000545300 uncertain significance Li-Fraumeni syndrome 2016-05-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in the last intron (intron 10) of the TP53 gene. It is expected to disrupt mRNA splicing and likely results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TP53-related disease. Although donor and acceptor splice site variants are typically truncating (PMID: 16199547) and truncating variants in TP53 are known to be pathogenic (PMID: 20522432), the pathogenicity of this acceptor splice site variant in the last intron is not conclusive due to the uncertain impact on mRNA splicing and protein function. It has been classified as a Variant of Uncertain Significance.

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