ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.388C>T (p.Leu130Phe) (rs863224683)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571787 SCV000664438 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000200055 SCV000254631 uncertain significance Li-Fraumeni syndrome 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 130 of the TP53 protein (p.Leu130Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in families with suspected Li-Fraumeni syndrome, and in an individual affected with breast cancer (PMID: 18511570, 19468865, 11332399). ClinVar contains an entry for this variant (Variant ID: 216466). This missense change is located within a functionally conserved DNA binding domain of the TP53 protein (PMID: 12826609, 23355100, 17311302). An experimental study has shown that this variant affects transcriptional activity of TP53 protein function in a yeast-based functional assay (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.

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