ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)

dbSNP: rs111033627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011652 SCV003445194 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2022-09-18 criteria provided, single submitter clinical testing This variant is also known as 502C>T. ClinVar contains an entry for this variant (Variation ID: 10905). 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. Experimental studies have shown that this missense change affects SH2D1A function (PMID: 11414741, 11477068). 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. This missense change has been observed in individuals with X-linked recessive lymphoproliferative syndrome (PMID: 9771704, 11414741). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 68 of the SH2D1A protein (p.Thr68Ile). This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000011652 SCV000031884 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 1998-10-01 no assertion criteria provided literature only

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