ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123499591)_(123499694_?)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 RCV003107651 SCV003794642 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-08-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the SH2D1A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SH2D1A are known to be pathogenic (PMID: 9771704, 11049992, 15711562). A similar copy number variant has been observed in individuals with X-linked recessive lymphoproliferative syndrome (PMID: 10598819, 11049992; Invitae). For these reasons, this variant has been classified as Pathogenic.

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