ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)

dbSNP: rs2059993925
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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 RCV001215514 SCV001387263 uncertain significance X-linked lymphoproliferative disease due to SH2D1A deficiency 2019-06-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 44 of the SH2D1A protein (p.Cys44Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with X-linked lymphoproliferative disease (PMID: 24723092, 20660790). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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