ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)

dbSNP: rs1060502836
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
Invitae RCV000472881 SCV000550938 uncertain significance Charcot-Marie-Tooth disease type 2 2020-11-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with GARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 410310). This sequence change replaces valine with isoleucine at codon 396 of the GARS protein (p.Val396Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV000764712 SCV000895846 uncertain significance Charcot-Marie-Tooth disease type 2D; Neuronopathy, distal hereditary motor, type 5A 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV002248686 SCV002517117 uncertain significance not specified 2022-05-04 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.