ClinVar Miner

Submissions for variant NM_032539.5(SLITRK2):c.630G>T (p.Glu210Asp)

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV004556008 SCV005045162 uncertain significance Intellectual developmental disorder, X-linked 111 2024-04-23 criteria provided, single submitter clinical testing The SLITRK2 c.630G>T (p.Glu210Asp) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. The amino acid at this position is predicted to be located in a beta sheet in the LRR domain (AlphaFold). Computational predictors uncertain as to the impact of this variant on SLITRK2 function. Another variant in the same codon, c.628G>A (p.Glu210Lys), has been reported in a male individual with a neurodevelopmental disorder (El Chehadeh S et al., PMID: 35840571). Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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.