ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.968+1G>A

dbSNP: rs1598620094
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001028106 SCV001190892 pathogenic Intellectual disability, autosomal dominant 57 2019-10-24 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001095744 SCV001251586 likely pathogenic TLK2-related neurodevelopmental disorder 2020-01-27 criteria provided, single submitter clinical testing The TLK2 c.968+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the consequence of the variant and absence from population frequency databases, the c.968+1G>A variant is classified as likely pathogenic for TLK2-related neurodevelopmental disorder.
Solve-RD Consortium RCV001028106 SCV005091353 likely pathogenic Intellectual disability, autosomal dominant 57 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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.