ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.649G>A (p.Val217Met) (rs35163653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000161936 SCV000211921 uncertain significance Li-Fraumeni syndrome 2017-09-11 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 217 of the TP53 protein (p.Val217Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs35163653, ExAC 0.01%). This variant has not been reported in the literature as a germline variant in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 183071). Experimental studies in yeast and a cell line have shown that this missense change does not affect TP53 transcriptional activity (PMID: 12826609, 24076587). 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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