ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.289G>C (p.Val97Leu) (rs730882023)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000161064 SCV000211796 uncertain significance not provided 2015-01-26 criteria provided, single submitter clinical testing This variant is denoted TP53 c.289G>C at the cDNA level, p.Val97Leu (V97L) at the protein level, and results in the change of a Valine to a Leucine (GTC>CTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TP53 Val97Leu 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 Valine and Leucine share similar properties, this is considered a conservative amino acid substitution. TP53 Val97Leu occurs at a position that is conserved among mammals and is located within region responsible for interacting with WWOX (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether TP53 Val97Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.

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