ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2683_2704del (p.Arg895fs) (rs1555743321)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586795 SCV000695981 likely pathogenic Severe combined immunodeficiency disease 2016-08-24 criteria provided, single submitter clinical testing Variant summary: The JAK3 c.2683_2704delCGCCAGAGCCTGCGGCTGGTCA (p.Arg895TrpfsX69) variant involves the deletion of 22 nucleotides, predicted to cause a truncated or absent JAK3 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as likely pathogenic by our laboratory (e.g. c.2787T>G/p.Tyr929X, c.3072delC/p.Cys1024fsX14). One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic unitl more information becomes available.

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