ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.*1_*3del (p.Ter214=)

dbSNP: rs1286603999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226085 SCV002504324 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
All of Us Research Program, National Institutes of Health RCV004005545 SCV004833409 uncertain significance Von Hippel-Lindau syndrome 2024-02-05 criteria provided, single submitter clinical testing This variant causes a 3-basepair deletion in the 3' untranslated region in the VHL gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with VHL-related disorders in the literature. This variant has been identified in 1/249286 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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