ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.932A>C (p.Asn311Thr) (rs56184981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205077 SCV000260174 uncertain significance Li-Fraumeni syndrome 2015-08-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 311 of the TP53 protein (p.Asn311Thr). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and threonine. This variant is not present in population databases and has not been reported in the literature. The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. Furthermore, algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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