ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) (rs587784403)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147548 SCV000194995 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000147548 SCV000953485 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-08-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 398 of the SMC1A protein (p.Arg398Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in several individuals affected with Cornelia de Lange syndrome (PMID: 19701948). ClinVar contains an entry for this variant (Variation ID: 159938). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as 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.