Submissions for variant NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) (rs770994564)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000471110	SCV000552946	uncertain significance	Charcot-Marie-Tooth disease, type I	2019-01-22	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with glutamine at codon 198 of the MPZ protein (p.Glu198Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs770994564, ExAC 0.01%). This variant has not been reported in the literature in individuals with MPZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 411672). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001174327	SCV001337463	uncertain significance	Charcot-Marie-Tooth disease		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.