ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123504006)_(123505241_?)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 RCV004581749 SCV005065853 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-07-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the SH2D1A gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with EBV-associated lymphoproliferation (PMID: 12356686, 35367395). It has also been observed to segregate with disease in related individuals. 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.