ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.449C>T (p.Thr150Ile)

dbSNP: rs2151032692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002051311 SCV002110923 uncertain significance Li-Fraumeni syndrome 2022-09-07 criteria provided, single submitter clinical testing Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt TP53 protein function. ClinVar contains an entry for this variant (Variation ID: 1350373). This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 150 of the TP53 protein (p.Thr150Ile). Experimental studies have shown that this missense change does not substantially affect TP53 function (PMID: 12826609, 29979965, 30224644). 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.
Hematological Lab, University of Education RCV003229062 SCV003926550 pathogenic Acute myeloid leukemia no assertion criteria provided clinical testing

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