ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val)

dbSNP: rs1556619338
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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 RCV000644910 SCV000766628 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2023-06-09 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. 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. ClinVar contains an entry for this variant (Variation ID: 536456). This missense change has been observed in individuals with clinical features of X-linked lymphoproliferative disease (PMID: 10898506; Invitae). It has also been observed to segregate with disease in related individuals. 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 39 of the SH2D1A protein (p.Gly39Val).

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