ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.129G>T (p.Leu43Phe)

dbSNP: rs754332870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071270 SCV001236564 uncertain significance Li-Fraumeni syndrome 2021-08-19 criteria provided, single submitter clinical testing This variant has been reported not to substantially affect TP53 protein function (PMID: 12826609, 30224644). This sequence change replaces leucine with phenylalanine at codon 43 of the TP53 protein (p.Leu43Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with breast cancer, as well as unaffected individual(s) (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 864154). 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.

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