ClinVar Miner

Submissions for variant NM_014694.4(ADAMTSL2):c.1198G>A (p.Gly400Ser)

gnomAD frequency: 0.00014  dbSNP: rs886063639
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
Illumina Laboratory Services, Illumina RCV000333656 SCV000478378 uncertain significance Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022109 SCV004853303 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.1198G>A (p.G400S) alteration is located in exon 10 (coding exon 9) of the ADAMTSL2 gene. This alteration results from a G to A substitution at nucleotide position 1198, causing the glycine (G) at amino acid position 400 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.