ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.165_168del (p.Glu56fs)

dbSNP: rs767189501
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 RCV000598663 SCV000710688 pathogenic not provided 2018-02-14 criteria provided, single submitter clinical testing The c.165_168delTGAA variant in the RAB3GAP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.165_168delTGAA variant causes a frameshift starting with codon Glutamic acid 56, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 34 of the new reading frame, denoted p.E56HfsX34. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.165_168delTGAA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.165_168delTGAA as a pathogenic variant.

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.