ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)

gnomAD frequency: 0.00001  dbSNP: rs1485425350
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548906 SCV000655822 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2019-06-23 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with a severe developmental disorder (PMID: 28135719). ClinVar contains an entry for this variant (Variation ID: 475589). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 910 of the MORC2 protein (p.Arg910Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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.