ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.201+3A>G

dbSNP: rs2147531380
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
Genetic Services Laboratory, University of Chicago RCV001817787 SCV002069198 likely pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing DNA sequence analysis of the SH2D1A gene demonstrated a sequence change located near the canonical splice donor site in intron 2, c.201+3A>G. This variant is not present as a benign sequence change in large population databases (ESP, ExAC).? This variant has been reported in one patient with X-linked lymphoproliferative disorder (Tabata et al, 2005), where? the variant was shown to result in abnormal splicing of the SH2D1A gene and premature termination of the SH2D1A protein.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264391 SCV002542940 likely pathogenic Autoinflammatory syndrome 2019-07-01 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.