ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.484T>C (p.Cys162Arg) (rs1553620313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587033 SCV000697521 pathogenic Von Hippel-Lindau syndrome 2016-08-31 criteria provided, single submitter clinical testing Variant summary: The c.484C>T (p.Cys162Arg) in VHL gene is a missense change that involves a non-conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant of interest is located within the elongin binding domain, and mutations in this region have been found in multiple VHL patients. The variant is absent from the control population dataset of ExAC but has been reported in multiple affected individuals from VHL families and was proven to segregate with the disease. In addition, codon Cy162 appears to be a hotspot, since other alterations of this codon, p.C162W, p.C162Y and p.C162F, were found in multiple VHL pts. Taking together, the variant was classified as Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000587033 SCV000897833 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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