ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123499591)_(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 RCV004581738 SCV005065842 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with X-linked lymphoproliferative disease (PMID: 11049992). This variant is a gross deletion of the genomic region encompassing exon(s) 2-4 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.

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