ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) (rs1323153568)

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 RCV000519479 SCV000617776 pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing The R310Q pathogenic variant in the GDAP1 gene has been previously reported with a pathogenic variant on the opposite allele (in trans) as a in two siblings with with autosomal recessive CMT (Azzedine et al., 2003). Functional studies demonstrate that R310Q induces peroxisomal fission and allows fusion of the mitochondrial matrix (Huber et al., 2013). The R310Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R310Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Therefore, R282C is interpreted to be a pathogenic variant.
Inherited Neuropathy Consortium RCV000789782 SCV000929166 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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.