ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.197_201+9del

dbSNP: rs2060052777
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 RCV001246291 SCV001419634 likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2020-01-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in SH2D1A are known to be pathogenic (PMID: 9771704, 11049992, 15711562). This variant has not been reported in the literature in individuals with SH2D1A-related conditions. This variant results in the deletion of part of exon 2 (c.197_201+9del) of the SH2D1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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.