ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.134T>C (p.Leu45Pro) (rs879254066)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235508 SCV000293353 uncertain significance not provided 2015-11-02 criteria provided, single submitter clinical testing This variant is denoted TP53 c.134T>C at the cDNA level, p.Leu45Pro (L45P) at the protein level, and results in the change of a Leucine to a Proline (CTG>CCG). This variant not, to our knowledge, been published in the literature as either a pathogenic germline variant or a benign polymorphism. TP53 Leu45Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Leucine and Proline differ in some properties, this is considered a semi-conservative amino acid substitution. TP53 Leu45Pro occurs at a position that is not conserved and is located within the region of interaction with HRMT1L2 (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether TP53 Leu45Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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