ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.482G>A (p.Arg161His)

dbSNP: rs104894076
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
CeGaT Center for Human Genetics Tuebingen RCV001200307 SCV001371229 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV000004412 SCV001516849 likely pathogenic Charcot-Marie-Tooth disease type 4A 2022-09-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects GDAP1 function (PMID: 16172208, 18021315, 21890626, 28220846). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 4192). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 11743579, 14561495, 25231362; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 161 of the GDAP1 protein (p.Arg161His).
OMIM RCV000004412 SCV000024585 pathogenic Charcot-Marie-Tooth disease type 4A 2002-01-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000004412 SCV004174620 uncertain significance Charcot-Marie-Tooth disease type 4A 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.