ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.414+2T>C

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
Molecular Genetics, Royal Melbourne Hospital RCV003994725 SCV004812758 uncertain significance Child syndrome 2024-03-01 criteria provided, single submitter clinical testing This sequence change in NSDHL occurs within the canonical splice donor site of intron 4. It is predicted to cause skipping of biologically relevant exon 4/8, resulting in an in-frame deletion (removes amino acids 90-138) that is expected to escape nonsense-mediated decay and remove <10% of the protein. This variant is absent from the population database gnomAD v4.0. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PVS1_Strong, PM2_Supporting.

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.