ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) (rs1569480082)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781479 SCV000919542 likely pathogenic X-linked severe combined immunodeficiency 2017-09-14 criteria provided, single submitter clinical testing Variant summary: The c.181C>T (p.Gln61*) variant in IL2RG gene is a nonsense change that results in the loss of ~309 amino acids of IL2RG protein (~85%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population datasets of ExAC and gnomAD (~62175 and 168502 chrs tested, respectively). The c.181C>T variant has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Other truncating variants downstream of the variant of interest, such as c. c.186T>A (p.Cys62*) and c.207C>A (Tyr69*), have been reported in association with SCID. Taken together, the variant is classified as Likely Pathogenic.

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