ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) (rs281865473)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000032181 SCV000807287 uncertain significance Koolen-de Vries syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it twice in our laboratory: in a 7-year-old male with intellectual disability, dysmorphisms, short stature, strabismus, asymmetric prominent ventricles, possible undermylination, amygdala/hippocampal dysgenesis; in a 3-year-old feale with global delays, hypotonia, dysmorphisms, short stature, microcephaly, congenital heart disease, brain & eye anomalies. However, inheritance was not determined, and of note, the promoter and 5' exons of KANSL1 can be partially duplicated in some individuals. Exome and Sanger data could not distinguish if this change is located in the real KANSL1 gene or the duplicated copy of the gene
GeneReviews RCV000032181 SCV000055765 pathologic Koolen-de Vries syndrome 2012-11-20 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000032181 SCV000677104 pathogenic Koolen-de Vries syndrome 2018-01-02 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.