ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.400T>G (p.Phe134Val)

dbSNP: rs267605077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo RCV001270266 SCV001450480 pathogenic Familial cancer of breast criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV001324043 SCV001514982 uncertain significance Li-Fraumeni syndrome 2022-02-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects TP53 function (PMID: 12826609, 29979965, 30224644). 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 expected to disrupt TP53 protein function. ClinVar contains an entry for this variant (Variation ID: 988615). 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 phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the TP53 protein (p.Phe134Val).
Myriad Genetics, Inc. RCV004035436 SCV004932135 likely pathogenic Li-Fraumeni syndrome 1 2024-02-13 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 29979965].

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