ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)

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
3billion RCV002283935 SCV002573162 likely pathogenic Autosomal dominant centronuclear myopathy 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.55; 3Cnet: 0.80). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with DNM2-related disorder (PMID: 23374900). The variant has been reported to co-segregate with the disease in at least 3 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 23374900). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447331 SCV004174760 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 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.