ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys)

dbSNP: rs1555410285
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272355 SCV002556499 uncertain significance Intellectual disability, autosomal dominant 13 2021-07-21 criteria provided, single submitter clinical testing The DYNC1H1 c.7846G>A variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2, PP3) The DYNC1H1 c.7846G>A variant is a single nucleotide change in exon 38 of the DYNC1H1 gene, which is predicted to change the amino acid glutamic acid at position 2616 in the protein to lysine. This variant has not been reported in dbSNP and is absent from population databases (PM2). This variant has been reported in two members of a family with distal muscle atrophy and proximal muscle weakness of the lower limbs, as well as mild cognitive impairment (PMID: 25609763) and has been referred to as a variant of uncertain significance in ClinVar for autosomal dominant distal hereditary motor neuropathy (ClinVar Variation ID: 637520) and as damaging for spinal muscular atrophy in the HGMD disease datase (CM151466). Computational predictions support a deleterious effect on the gene or gene product (PP3).
Inherited Neuropathy Consortium RCV000789740 SCV000929117 uncertain significance Neuronopathy, distal hereditary motor, autosomal dominant no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447247 SCV004174357 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 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.