ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys) (rs144573168)

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
GeneDx RCV000498608 SCV000589728 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing The N834K (c.2502 C>G) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N834K (c.2502 C>G) variant is not observed in large population cohorts (Lek et al., 2016). The N834K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. The N834K substitution occurs at a position that is conserved in mammals. In silico analysis predicts that the N834K variant likely does not alter the protein structure/function. Several in-silico splice prediction models predict that the c.2502 C>G nucleotide substitution, responsible for N834K, creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether the N834K (c.2502 C>G) variant is a pathogenic variant or a rare benign variant.
Invitae RCV001080738 SCV001092513 benign Encephalopathy, acute, infection-induced, 3, suceptibility to 2020-09-14 criteria provided, single submitter clinical testing

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.