ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.201+4T>G

gnomAD frequency: 0.00001  dbSNP: rs201574927
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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 RCV001924086 SCV002200337 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-07-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1424854). This sequence change falls in intron 2 of the SH2D1A gene. It does not directly change the encoded amino acid sequence of the SH2D1A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201574927, gnomAD 0.004%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with SH2D1A-related conditions.

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