ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.356_357insGG (p.Phe119fs) (rs1131691526)

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
GeneDx RCV000494175 SCV000582304 likely pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing The c.356_357insGG variant in the VHL gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This insertion causes a frameshift starting with codon Phenylalanine 119, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 41 of the new reading frame, denoted p.Phe119LeufsX41. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, c.356_357insGG is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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.