ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123480493)_(123505241_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963207 SCV002238048 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-11-27 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SH2D1A gene has been identified. Loss-of-function variants in SH2D1A are known to be pathogenic (PMID: 9771704, 11049992, 15711562). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with X-linked lymphoproliferative disease (PMID: 10598819, 23829589). For these reasons, this variant has been classified as Pathogenic.

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