ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123497345)_(123505232_?)del

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 RCV004581760 SCV005065864 likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2020-01-21 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. This variant disrupts the p.Gly93 amino acid residue in SH2D1A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11414741, 28482391, 28816794). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with SH2D1A-related conditions. This variant results in the deletion of exon(s) 2-3 and part of exon 4 (c.138-2266_378delinsT) of the SH2D1A gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a 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.