ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.605G>T (p.Arg202Leu) (rs587778719)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000161030 SCV000211751 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing This variant is denoted TP53 c.605G>T at the cDNA level, p.Arg202Leu (R202L) at the protein level, and results in the change of an Arginine to a Leucine (CGT>CTT). This variant has been observed in several tumors as a somatic variation (COSMIC). The IARC p53 database listed this variant as non-functional based on impaired transactivation capacities (Petitjean 2007) TP53 Arg202Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Arginine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. TP53 Arg202Leu occurs at a position that is moderately conserved across species and is located in the DNA binding domain and the region of interaction with HIPK1, ZNF385A, FBXO42, and AXIN1 (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether TP53 Arg202Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.

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