ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.408dup (p.Val137fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003817926 SCV004607387 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val137Cysfs*7) in the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VHL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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