ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.134C>G (p.Pro45Arg) (rs199583685)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000236098 SCV000285486 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000236098 SCV000292704 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing This variant is denoted VHL c.134C>G at the cDNA level, p.Pro45Arg (P45R) at the protein level, and results in the change of a Proline to an Arginine (CCG>CGG). This variant has been reported in at least one individual with a history of clear cell renal cell carcinoma (Pe?a-Llopis 2012). VHL Pro45Arg was observed at an allele frequency of 0.12% (11/8568 ) in individuals of Ashkenazi Jewish ancestry in large population cohorts (Lek 2016). VHL Pro45Arg occurs at a position that is not conserved across species and is located in a region of tandem repeats (UniProt). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether VHL Pro45Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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