ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.341-1_342dup

dbSNP: rs1696260542
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071279 SCV001236574 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-11-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 864161). This variant is also known as 555_556dupGGT and c.342_343dupGGT. This variant has been observed in individuals with clinical features of von Hippel-Lindau (VHL) syndrome (PMID: 17024664; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.341-1_342dup, results in the insertion of 1 amino acid(s) of the VHL protein (p.Gly114dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV004030782 SCV005036784 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-16 criteria provided, single submitter clinical testing The c.341-1_342dupGGT variant results from a duplication of 3 nucleotides between positions 341-1 and 342 and involves the canonical splice acceptor site before coding exon 2 of the VHL gene. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, the exact impact of this duplication on VHL splicing and function is currently unknown. The canonical splice acceptor site is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.