ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp)

dbSNP: rs886039228
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
Laboratorio de Biología Molecular, FLENI RCV001849545 SCV001951007 pathogenic Perry syndrome 2021-08-19 no assertion criteria provided clinical testing The c.200G>A variant in DCTN1 (NM_004082.4) predicts a glycine-to-aspartic acid substitution at codon 67 (p.G67D). This variant was present in two siblings of an Argentine family with Perry Disease and absent in an asymptomatic brother. Ages of onset for affected individuals were: 55 and 56 years. There are two additional families with this variant reported in the literature (Aji et al, 2013; Chung et al, 2014). According to ACMG guidelines (Richards, 2015) this variant can be classified as "pathogenic" (supporting evidence PM1, PM2, PP1, PP3, PP4_strong, PP5). Functional studies were not performed yet.
Inherited Neuropathy Consortium Ii, University Of Miami RCV001849545 SCV004174454 uncertain significance Perry syndrome 2016-01-06 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.