ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.400G>T (p.Glu134Ter)

dbSNP: rs2125128363
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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 RCV001381653 SCV001580139 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2020-02-17 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with cerebellar hemangioblastoma (PMID: 17024664). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu134*) in the VHL gene. It is expected to result in an absent or disrupted protein product.

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