ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.102C>T (p.Ser34=)

gnomAD frequency: 0.00001  dbSNP: rs1484311033
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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 RCV001994273 SCV002267668 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2021-09-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SH2D1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 34 of the SH2D1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SH2D1A protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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