ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.201+1dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785977 SCV005402321 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-12-27 criteria provided, single submitter clinical testing The SH2D1A c.201+1dup intronic change results from a duplication of G at the +1 position of intron 2 of the SH2D1A gene. This variant is predicted to result in the loss of the native splice donor site and abnormal gene splicing. RNA sequencing in the tumor sample demonstrates alternative splicing (internal data). This variant has been identified in one individual with Burkitt lymphoma (Internal data). This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.

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