ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.179_192del (p.Arg60fs) (rs1064796408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479186 SCV000573107 likely pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing The c.179_192del14 variant in the VHL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This deletion causes a frameshift starting with codon Arginine 60, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 67 of the new reading frame, denoted p.Arg60LeufsX67. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, c.179_192del14 is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded.
Invitae RCV000803035 SCV000942891 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg60Leufs*67) in the VHL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VHL-related disease. ClinVar contains an entry for this variant (Variation ID: 423409). Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.

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