ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.393C>A (p.Asn131Lys) (rs1064794272)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482784 SCV000568591 likely pathogenic not provided 2016-04-11 criteria provided, single submitter clinical testing This variant is denoted VHL c.393C>A at the cDNA level, p.Asn131Lys (N131K) at the protein level, and results in the change of an Asparagine to a Lysine (AAC>AAA). This variant has been observed in several individuals with a clinical diagnosis of von Hippel-Lindau (VHL) syndrome (Olschwang 1998, Perigny 2009, Erlic 2010, Majchrzak 2011). VHL Asn131Lys 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 Asparagine and Lysine differ in some properties, this is considered a semi-conservative amino acid substitution. VHL Asn131Lys occurs at a position that is conserved across species and is located in the beta domain and the CCT complex binding region (Yuen 2009, UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, we consider VHL Asn131Lys to be a likely pathogenic variant.
Integrated Genetics/Laboratory Corporation of America RCV000482784 SCV000697510 uncertain significance not provided 2016-02-09 criteria provided, single submitter clinical testing

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