ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.396G>T (p.Lys132Asn) (rs866775781)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785513 SCV000924085 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000795096 SCV000934538 uncertain significance Li-Fraumeni syndrome 2018-07-29 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 132 of the TP53 protein (p.Lys132Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. Experimental studies have shown that this missense change impairs the TP53 protein function (PMID: 12826609, 16861262). The observation of one or more missense substitutions at this codon (p.Lys132Glu and p.lys132Gln) in affected individuals suggests that this may be a clinically significant residue (PMID: 9157982, 18989156). 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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