ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.811G>A (p.Glu271Lys) (rs1060501191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775714 SCV000910131 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-30 criteria provided, single submitter clinical testing
Invitae RCV000457572 SCV000545276 uncertain significance Li-Fraumeni syndrome 2016-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 271 of the TP53 protein (p.Glu271Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the germline of individuals with a TP53-related disease. Yeast-based functional assays have shown that this missense change results in partial loss of TP53 transcriptional activity (PMID: 12826609). In summary, this is a rare missense variant that partially impairs protein function in vitro. However, 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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