ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer)

dbSNP: rs1568404443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687336 SCV000814899 pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency 2018-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in JAK3 are known to be pathogenic (PMID: 7481768, 11668621). This variant has not been reported in the literature in individuals with JAK3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu521*) in the JAK3 gene. It is expected to result in an absent or disrupted protein product.

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