ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.807+2T>G (rs1234256852)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498583 SCV000589788 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing The c.807+2 T>G splice site variant in the SLC19A2 gene destroys the canonical splice donor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this variant has not been previously reported to our knowledge, it is predicted to be a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000762862 SCV000893232 likely pathogenic Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2018-10-31 criteria provided, single submitter clinical testing

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.