ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.2211+3_2211+6del

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
Neuberg Centre For Genomic Medicine, NCGM RCV004818913 SCV005438885 uncertain significance Spastic paraplegia-severe developmental delay-epilepsy syndrome 2023-07-22 criteria provided, single submitter clinical testing The observed splice region c.2211+3_2211+6del variant in HACE1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.2211+3_2211+6del variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. SpliceAI predicts this variant to cause splice donor loss 0.97 and donor gain 0.29. Loss of function variants have been previously reported to be disease causing. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

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.