Submissions for variant NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) (rs879254346)

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
Invitae	RCV000236620	SCV000294295	uncertain significance	Charcot-Marie-Tooth disease, type 2	2017-03-24	criteria provided, single submitter	clinical testing	This sequence change replaces proline with leucine at codon 681 of the GARS protein (p.Pro681Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GARS-related disease. ClinVar contains an entry for this variant (Variation ID: 246654). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000660607	SCV000782723	uncertain significance	Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5	2017-08-11	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.