ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)

dbSNP: rs137852646
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002228024 SCV002508619 pathogenic Charcot-Marie-Tooth disease type 2 2021-05-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 580 of the GARS protein (p.Gly580Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects GARS protein function (PMID: 17545306, 17595294, 27008886). This variant has been observed in individual(s) with distal hereditary motor neuropathy (PMID: 12690580, 16769947). It has also been observed to segregate with disease in related individuals. This variant is also known as G526R in the literature. ClinVar contains an entry for this variant (Variation ID: 9207).
OMIM RCV000009786 SCV000030007 pathogenic Neuronopathy, distal hereditary motor, type 5A 2006-06-13 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790258 SCV000929658 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
GeneReviews RCV001542258 SCV001760940 not provided Charcot-Marie-Tooth disease type 2D no assertion provided literature only GARS1-HMSN (CMT2D) [Antonellis et al 2003, Dubourg et al 2006]
Inherited Neuropathy Consortium Ii, University Of Miami RCV001542258 SCV004174558 uncertain significance Charcot-Marie-Tooth disease type 2D 2016-01-06 no assertion criteria provided literature only

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.