ClinVar Miner

Submissions for variant NM_001042537.1(SLC9A6):c.526-9_526-5del (rs796053290)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189417 SCV000243056 uncertain significance not specified 2015-05-13 criteria provided, single submitter clinical testing The c.430-(9_5)delTTTTA variant has been previously reported (using alternative nomenclature of c.526-9_526-5delTTTTA), as a maternally inherited variant in an male patient (Redin et al., 2014). Several in-silico splice prediction models predict that c.430-(9_5)delTTTTA may damage or even destroy the natural splice acceptor site in intron 2, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Diagnostic Laboratory, Strasbourg University Hospital RCV000224024 SCV000281729 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000240849 SCV000597126 likely pathogenic Christianson syndrome 2016-01-27 criteria provided, single submitter clinical testing
OMIM RCV000240849 SCV000299334 pathogenic Christianson syndrome 2016-09-15 no assertion criteria provided literature only

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.