ClinVar Miner

Submissions for variant NM_001961.4(EEF2):c.884A>T (p.Asp295Val)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003388740 SCV004100492 uncertain significance Spinocerebellar ataxia type 19/22 criteria provided, single submitter clinical testing The missense variant p.D295V in EEF2 (NM_001961.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D295V variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.D295V missense variant is predicted to be damaging by both SIFT and PolyPhen2. The aspartic acid residue at codon 295 of EEF2 is conserved in all mammalian species. The nucleotide c.884 in EEF2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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.