ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) (rs140992482)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792530 SCV000931833 pathogenic not provided 2019-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 41 of the MPV17 protein (p.Arg41Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs140992482, ExAC 0.004%). This variant has been observed in individuals affected with axonal sensorimotor neuropathy (PMID: 26437932, 30298599). This variant has been reported to affect MPV17 protein function (PMID: 26437932). This variant disrupts the p.Arg41 amino acid residue in MPV17. Other variant(s) that disrupt this residue have been observed in individuals with MPV17-related conditions (PMID: 23714749, 28673863), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
SIB Swiss Institute of Bioinformatics RCV000768421 SCV000998883 likely pathogenic Charcot-marie-tooth disease, axonal, type 2ee 2019-08-13 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Charcot-Marie-Tooth disease, axonal, 2EE, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PS3-supporting, PM3.
OMIM RCV000768421 SCV000899173 pathogenic Charcot-marie-tooth disease, axonal, type 2ee 2019-04-29 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001249366 SCV001423354 not provided Mitochondrial DNA depletion syndrome, hepatocerebral form no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 08-05-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.