ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.-1A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002292084 SCV002584300 likely benign not provided 2022-10-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002416559 SCV002717800 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-14 criteria provided, single submitter clinical testing The c.-1A>G variant is located in the 5' untranslated region (5’ UTR) of the VHL gene. This variant results from an A to G substitution 1 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005595 SCV004833053 uncertain significance Von Hippel-Lindau syndrome 2023-05-04 criteria provided, single submitter clinical testing This variant causes a A to G nucleotide substitution at the -1 position of the 5' 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 not been identified 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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