Submissions for variant NM_020956.2(PRX):c.*1427C>T (rs150244426)

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
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000512796	SCV000608904	uncertain significance	not provided	2017-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV000654145	SCV000776035	uncertain significance	Charcot-Marie-Tooth disease type 4	2017-12-04	criteria provided, single submitter	clinical testing	This sequence change replaces proline with serine at codon 408 of the PRX protein (p.Pro408Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs150244426, ExAC 0.1%). This variant has not been reported in the literature in individuals with PRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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	RCV001173746	SCV001336860	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.