ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.500G>C (p.Arg167Pro) (rs5030821)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492510 SCV000580969 pathogenic Hereditary cancer-predisposing syndrome 2018-08-28 criteria provided, single submitter clinical testing The p.R167P pathogenic mutation (also known as c.500G>C), located in coding exon 3 of the VHL gene, results from a G to C substitution at nucleotide position 500. The arginine at codon 167 is replaced by proline, an amino acid with dissimilar properties. This mutation has been identified in multiple von Hippel-Lindau disease cohorts (Bausch B et al. Head Neck, 2016 Apr;38 Suppl 1:E673-9; Jonasch E et al. Ann. Oncol., 2011 Dec;22:2661-6; Peng S et al. Oncotarget, 2017 Jun;8:38456-38465). In addition, several other mutations affecting codon 167 have been chacterized in VHL patients (Ong KR et al. Hum. Mutat., 2007 Feb;28:143-9; Crossey PA et al. Hum. Mol. Genet., 1994 Aug;3:1303-8). 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 supporting evidence, this alteration is interpreted as a disease-causing mutation.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000767282 SCV000897840 likely pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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