ClinVar Miner

Submissions for variant NM_001354723.2(VHL):c.*164G>T (rs758853661)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631268 SCV000752296 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Glu204*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 10 amino acids of the VHL protein. This variant is present in population databases (rs758853661, ExAC 0.009%). This variant has not been reported in the literature in individuals with VHL-related disease. This variant is expected to delete a portion of the C-terminal region of the VHL protein near the β domain (a-helix) (PMID: 14691445, 14987375). Experimental studies are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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