ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.814G>C (p.Val272Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696673 SCV000825246 uncertain significance Li-Fraumeni syndrome 2018-08-21 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 272 of the TP53 protein (p.Val272Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). A different nucleotide change with the same effect on TP53 protein (p.Val272Leu) has been reported in an individual affected with childhood acute lymphoblastic leukemia, and in multiple individuals from a family with suspected Li-Fraumeni syndrome (PMID: 1737852, 17606709). Experimental studies have shown that this variant and other nucleotide variants resulting in the same amino acid change lead to altered TP53 transactivation activity in vitro (PMID: 12826609, 20128691, 9290701, 27533082, 21343334). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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