ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.328-2A>G

dbSNP: rs1064795837
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
GeneDx RCV000481719 SCV000572020 likely pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing The c.328-2A>G variant in the ANK1 gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. This splice site variant destroys the canonical spliceacceptor site in intron 4, which is predicted to cause abnormal gene splicing. The c.328-2A>G variantwas not observed in approximately 6500 individuals of European and African American ancestry inthe NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. Therefore, we interpret c.328-2A>G as a likely pathogenic variant

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.