ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.475A>G (p.Lys159Glu) (rs1575932011)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023000 SCV001184807 likely pathogenic Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing The p.K159E variant (also known as c.475A>G), located in coding exon 3 of the VHL gene, results from an A to G substitution at nucleotide position 475. The lysine at codon 159 is replaced by glutamic acid, an amino acid with similar properties. This alteration is located in the elongin-binding region and has been identified in individuals with histories consistent with Von Hippel-Lindau syndrome (Zbar B et al. Hum. Mutat., 1996;8:348-57; Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.<br />

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