Submissions for variant NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) (rs797045535)

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
Genetic Services Laboratory,University of Chicago	RCV000192412	SCV000247223	likely benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000236144	SCV000292890	likely pathogenic	not provided	2016-10-31	criteria provided, single submitter	clinical testing	The E2640K variant in the DYNC1H1 gene has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The E2640K variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E2640K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The E2640K variant is a strong candidate for a disease-causing variant
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000660532	SCV000782635	uncertain significance	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13	2017-03-23	criteria provided, single submitter	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.