ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.201+1G>A

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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 RCV003509079 SCV004298982 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-02-21 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with clinical features of SH2D1A-related conditions (PMID: 20632414; Invitae). This sequence change affects a donor splice site in intron 2 of the SH2D1A gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant is also known as Intron 2: G(+1)‚ÜíA, or g.19528G>A. Studies have shown that disruption of this splice site results in skipping of exon 2 and introduces a premature termination codon (PMID: 10598819). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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