ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+646A>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042467 SCV001206149 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-06-22 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the VHL gene. It does not directly change the encoded amino acid sequence of the VHL protein, but it affects a nucleotide within the consensus splice site of the intron. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with VHL-related conditions. ClinVar contains an entry for this variant (Variation ID: 840470). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.