ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.656C>G (p.Pro219Arg)

dbSNP: rs1420675064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225718 SCV001398006 uncertain significance Li-Fraumeni syndrome 2020-06-08 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. This variant disrupts the p.Pro219 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25925845, 25584008, 7966399, 12826609). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect TP53 protein function (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 proline with arginine at codon 219 of the TP53 protein (p.Pro219Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.

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