ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.179_192del (p.Arg60fs)

dbSNP: 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 Chuvash polycythemia; Von Hippel-Lindau syndrome 2018-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). 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). This variant is not present in population databases (ExAC no frequency). 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.

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