ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) (rs377619533)

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
GeneDx RCV000489967 SCV000576980 pathogenic not provided 2017-04-13 criteria provided, single submitter clinical testing The S1155X variant in the ASXL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 1094 amino acids of the protein are lost. The S1155X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret S1155X as a pathogenic variant.
GenomeConnect, ClinGen RCV000509186 SCV000607213 not provided Bainbridge-Ropers syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.