Submissions for variant NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) (rs148514935)

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	RCV000523774	SCV000619579	uncertain significance	not specified	2017-08-01	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the HSPB8 gene. The E167K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E167K variant is observed in 35/10406 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E167K 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. In silico analysis predicts this variant is probably 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	RCV000640163	SCV000761751	likely benign	Charcot-Marie-Tooth disease, type 2L	2017-11-23	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.