ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.574G>A (p.Val192Ile) (rs387906310)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586917 SCV000697172 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The HEXA c.574G>A (p.Val192Ile) variant involves the alteration of a conserved nucleotide and is located in Glycoside hydrolase, catalytic domain (InterPro). 3/5 in silico tools predict a damaging outcome for this variant. However, these predictions have yet to be confirmed by functional studies. Another variant at the same residue, V192L, is an established pathogenic variant with concordant functional data (PMIDs: 8659543, 8198136, 2976595, and 1415222). Therefore the variant of interest may also be expected to impair the function of protein. This variant is absent in 121306 control chromosomes from ExAC. In literature, it has been reported in at least one brain autobiopsy sample without clear-cut information about clinical diagnosis (Clark _2015). Taken together, this variant is currently classified as Variant of Uncertain Significance.

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.