ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.1450+2T>G

dbSNP: rs1573627154
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002387 SCV001160305 likely pathogenic Retinitis pigmentosa 38 2019-03-04 criteria provided, single submitter clinical testing The MERTK c.1450+2T>G variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant abolishes the canonical splice donor site of intron 9, which is likely to disrupt gene function. Based on available information, this variant is considered to be likely pathogenic.

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.