ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)

dbSNP: rs1557733597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000721142 SCV003837555 pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000721142 SCV004047782 pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures criteria provided, single submitter clinical testing The frame shift (c.414_418del) variant has been reported previously in patients affected with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (Ghosh et. al., 2018). The p.Ala139GlyfsTer4 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. This variant causes a frameshift starting with codon Alanine 139, changes this amino acid to Glycine residue, and creates a premature stop codon at position 4 of the new reading frame, denoted p.Ala139GlyfsTer4. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000721142 SCV000852025 pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2018-11-08 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV002251751 SCV002522453 pathogenic not provided no assertion criteria provided 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.