ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.263C>T (p.Ala88Val) (rs1602499659)

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
The Genetics Institute,Rambam Health Care Campus RCV000857312 SCV000999384 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2z 2019-12-01 criteria provided, single submitter clinical testing This variant was observed de novo in a patient with a neurodevelopmental disorder and dysmorphic features. This sequence change replaces Alanine with Valine at codon 88 of the MORC2 protein (p.Ala88Val). The Alanine residue is a highly conserved amino acid, up to c. elegans and there is a small physicochemical difference between Ala and Val (Grantham dist.: 64 [0-215]). This variant is absent from population databases (gnomAD). Pathogenic computational algorithms (DANN, MutationTaster, PolyPhen-2, SIFT, Align GVGD) are mostly supportive of a deleterious effect. a different pathogenic variant (p.Ser87Leu) was reported in proximity (Sevilla T. et al 2016, Douse C.H. et al 2018). We interpret this variant as likely pathogenic.

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.