ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.103T>A (p.Leu35Met) (rs1060501211)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470404 SCV000545361 uncertain significance Li-Fraumeni syndrome 2017-10-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 35 of the TP53 protein (p.Leu35Met). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 406609). Experimental studies have shown that this missense change has a neutral effect on TP53 protein function (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.
Ambry Genetics RCV000572574 SCV000667192 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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