ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123499639)_(123506985_?)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 RCV004581771 SCV005065875 likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2018-06-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SH2D1A-related disease. 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. Gross deletions of exons 3, exons 2-4, and exons 3-4 have been observed in individuals and families with X-linked lymphoproliferative disease (PMID: 11049992, 12356686, 21119115). Therefore, deletions that fully encompass these regions are also expected to be causative of disease. This variant is a gross deletion of the genomic region encompassing exons 3-4 and part of exon 2 (c.166_*1744del) of the SH2D1A gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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