ClinVar Miner

Submissions for variant NC_000023.10:g.(?_123494030)_(123499653_?)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 RCV003107653 SCV003794644 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-03-08 criteria provided, single submitter clinical testing This variant disrupts a region of the SH2D1A protein in which other variant(s) (p.Thr53Ile) have been determined to be pathogenic (PMID: 11049992, 11477068, 30572125). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SH2D1A-related conditions. This variant results in the deletion of part of exon 2 (c.138-5576_185del) of the SH2D1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SH2D1A are known to be pathogenic (PMID: 9771704, 11049992, 15711562).

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