ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val)

gnomAD frequency: 0.00001  dbSNP: rs757900199
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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 RCV001924409 SCV002202113 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-08-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 113 of the SH2D1A protein (p.Gly113Val). This variant is present in population databases (rs757900199, gnomAD 0.008%), 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. ClinVar contains an entry for this variant (Variation ID: 1425284). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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