ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)

dbSNP: rs766433101
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706715 SCV001934469 pathogenic Bohring-Opitz syndrome 2021-03-05 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
CeGaT Center for Human Genetics Tuebingen RCV001726412 SCV001962380 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing ASXL1: PVS1:Strong, PM2, PS2:Moderate, PS4:Moderate
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001706715 SCV004808274 likely pathogenic Bohring-Opitz syndrome 2024-03-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001706715 SCV005204835 pathogenic Bohring-Opitz syndrome 2024-06-10 criteria provided, single submitter clinical testing Variant summary: ASXL1 c.1900_1922del23 (p.Glu635ArgfsX15) results in a premature termination codon, not expected to result in nonsense mediated decay (NMD) but predicted to cause a truncation of the encoded protein, removing a large part of the protein, including the PHD-type zinc finger domain (amino acids 1500-1539; IPR026905), which is a DNA-binding domain. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, the variant, c.1900_1922del23, has not been reported in the literature in individuals affected with Bohring-Opitz Syndrome. However, multiple truncations downstream are reported in affected individuals (HGMD) and are classified as pathogenic for Bohring-Opitz syndrome by our laboratory (and others in ClinVar). ClinVar contains an entry for this variant (Variation ID: 812900). Based on the evidence outlined above, the variant was classified as pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003812 SCV001162262 pathogenic Juvenile myelomonocytic leukemia; Cafe-au-lait spot no assertion criteria provided research

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.