ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val)

dbSNP: rs2147531318
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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 RCV001920267 SCV002179594 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-06-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1410736). This missense change has been observed in individual(s) with X-linked lymphoproliferative syndrome (PMID: 11493483). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 49 of the SH2D1A protein (p.Gly49Val). 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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