ClinVar Miner

Submissions for variant NM_198156.3(VHL):c.164_171dup (p.Arg60fs) (rs886041345)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000267121 SCV000329835 pathogenic not provided 2018-03-30 criteria provided, single submitter clinical testing The c.164_171dupAGGCCGGG variant in the VHL gene has been reported previously in associationwith von Hippel-Lindau syndrome (Chacon-Camacho et al., 2014). The duplication causes aframeshift starting with codon Arginine 60, changes this amino acid to a Glycine residue and creates apremature Stop codon at position 10 of the new reading frame, denoted p.Arg60GlyfsX10. Thisvariant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. Based on the currently available information, we considerc.164_171dupAGGCCGGG to be pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767231 SCV000897774 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing

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