ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp)

gnomAD frequency: 0.00007  dbSNP: rs200239526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942145 SCV001088064 benign X-linked severe combined immunodeficiency 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029722 SCV004886849 uncertain significance Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing The c.759G>T (p.E253D) alteration is located in exon 6 (coding exon 6) of the IL2RG gene. This alteration results from a G to T substitution at nucleotide position 759, causing the glutamic acid (E) at amino acid position 253 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000942145 SCV002087220 likely benign X-linked severe combined immunodeficiency 2020-02-17 no assertion criteria provided clinical testing

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