ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.839G>T (p.Arg280Ile)

dbSNP: rs121912660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633330 SCV000754552 uncertain significance Li-Fraumeni syndrome 2017-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 161517). Experimental studies have shown that this missense change disrupts the transactivation activity of the TP53 protein (PMID: 12826609). 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. This sequence change replaces arginine with isoleucine at codon 280 of the TP53 protein (p.Arg280Ile). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and isoleucine. This variant is not present in population databases (ExAC no frequency).
Myriad Genetics, Inc. RCV004019784 SCV004930575 likely pathogenic Li-Fraumeni syndrome 1 2024-02-20 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data].
Science for Life laboratory, Karolinska Institutet RCV000149052 SCV000088694 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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