ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.217C>T (p.Gln73Ter)

dbSNP: rs869025619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000679022 SCV000805327 pathogenic not provided 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV001218191 SCV001390063 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln73*) 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, 29891534, 31350093). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with von Hippel-Lindau disease (PMID: 7728151, 27527340). This variant is also known as a stop at codon 144. ClinVar contains an entry for this variant (Variation ID: 223164). For these reasons, this variant has been classified as Pathogenic.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000208804 SCV000264673 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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