ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.626A>G (p.Gln209Arg) (rs770746627)

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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 RCV001025058 SCV001187180 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-28 criteria provided, single submitter clinical testing The p.Q209R variant (also known as c.626A>G), located in coding exon 3 of the VHL gene, results from an A to G substitution at nucleotide position 626. The glutamine at codon 209 is replaced by arginine, an amino acid with highly similar properties. This alteration (designated as Gln209Arg) was previously reported in an individual with a clinical diagnosis of VHL and a personal history of CNS hemangioblastoma and pancreatic cyst; however, a deletion involving the entire VHL gene was also detected in this individual (Huang JS et al. Eur. J. Clin. Invest., 2007 Jun;37:492-500). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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