ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.87del (p.Asn31fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klein lab,Ludwig-Maximilians-University RCV000824674 SCV000882837 pathogenic X-linked severe combined immunodeficiency 2019-02-14 no assertion criteria provided research c.87delG mutation was reported in two brothers suffering from cryptosporidiosis, severe diarrhea, and cholangitis. Pan T, B, and NK cell numbers were normal, but immunophenotyping revealed defective B cell differentiation. Mutation results in normal surface expression of the IL-2Rγ chain. IL-4- and IL-21-induced phosphorylation of STAT3 and STAT6 was markedly reduced. Examination of RNA isoforms detected alternative splicing downstream of the IL2RG exon 1 in both patients resulting in resolution of the predicted frameshift and 16 mutated amino acids.

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