ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.394C>T (p.Gln132Ter)

dbSNP: rs5030813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000404768 SCV000342952 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000767266 SCV000897817 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859684 SCV002238994 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln132*) 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 premature translational stop signal has been observed in individual(s) with von Hippel-Lindau syndrome (PMID: 8707293). This variant is also known as c.607C>T. ClinVar contains an entry for this variant (Variation ID: 288749). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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