ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.854A>T (p.Glu285Val) (rs121912667)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813961 SCV000954348 pathogenic Li-Fraumeni syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 285 of the TP53 protein (p.Glu285Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs121912667, ExAC 0.002%). This variant has been observed to be de novo in an individual affected with pediatric adrenocortical carcinoma and choroid plexus carcinoma (PMID: 18762572, 25584008). ClinVar contains an entry for this variant (Variation ID: 12384). This variant has been reported to affect TP53 protein function (PMID: 12826609, 18762572, 25584008). This variant disrupts the p.Glu285 amino acid residue in TP53. Other variant(s) that disrupt this residue have been observed in individuals with TP53-related conditions (PMID: 11051239, 22507745, 23894400), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013184 SCV000033431 pathogenic Adrenocortical carcinoma, pediatric 2008-09-01 no assertion criteria provided literature only
OMIM RCV000013185 SCV000033432 pathogenic Choroid plexus carcinoma 2008-09-01 no assertion criteria provided literature only

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