ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs)

dbSNP: rs1599572831
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 RCV001008582 SCV001168355 pathogenic not provided 2019-02-14 criteria provided, single submitter clinical testing The c.4087_4088delATinsG variant in the ASXL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4087_4088delATinsG variant causes a frameshift starting with codon Methionine 1363, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Met1363GlyfsX12. This variant is predicted to cause loss of normal protein function through protein truncation. The c.4087_4088delATinsG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4087_4088delATinsG as a pathogenic variant.
GenomeConnect - Simons Searchlight RCV001265440 SCV001443571 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2019-04-15 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-04-15 and interpreted as Pathogenic. Variant was initially reported on 2019-02-22 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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.