ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.388_391del (p.Gly130fs)

dbSNP: rs1714851160
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001226732 SCV001399055 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2019-09-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SOX2 gene (p.Gly130Cysfs*23). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 188 amino acids of the SOX2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with microphthalmia (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as 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.