ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.626G>A (p.Arg209Lys)

dbSNP: rs2073332791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236518 SCV001409244 uncertain significance Li-Fraumeni syndrome 2019-08-23 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. An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 209 of the TP53 protein (p.Arg209Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine.
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo RCV001270279 SCV001450499 likely pathogenic Familial cancer of breast criteria provided, single submitter case-control

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