ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.951G>T (p.Gln317His) (rs1060501199)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477030 SCV000545316 uncertain significance Li-Fraumeni syndrome 2016-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 317 of the TP53 protein (p.Gln317His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Balkan endemic nephropathy (PMID: 16487937). Experimental studies done in yeast using 8 different promoters indicate that this missense change does not affect TP53 transcriptional transactivation activity (PMID: 12826609). In summary, this variant is a rare missense change that has been shown to preserve protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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