ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1085G>A (p.Ser362Asn) (rs768803947)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530397 SCV000629772 uncertain significance Li-Fraumeni syndrome 2017-03-19 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 362 of the TP53 protein (p.Ser362Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in the germline of individuals with a TP53-related disease. Experimental studies of transcriptional activity in yeast using 8 different promoters indicate that this missense change is functional (PMID: 12826609). The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. This prediction has not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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