Submissions for variant NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) (rs144539316)

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
GeneDx	RCV000520425	SCV000618289	uncertain significance	not specified	2017-06-30	criteria provided, single submitter	clinical testing	Another variant of uncertain significance has been identified in the NEB gene. The E6407K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E6407K variant is observed in 26/7824 (0.3%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E6407K 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 in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae	RCV000641399	SCV000763040	likely benign	Nemaline myopathy 2	2017-09-29	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.