ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.350G>A (p.Arg117Gln)

gnomAD frequency: 0.00005  dbSNP: rs147420907
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
Ambry Genetics RCV004035316 SCV004909733 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.350G>A (p.R117Q) alteration is located in exon 2 (coding exon 2) of the ASPM gene. This alteration results from a G to A substitution at nucleotide position 350, causing the arginine (R) at amino acid position 117 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252159 SCV001427909 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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.