ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.678_679del (p.Cys227fs) (rs193922364)

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Total submissions: 3
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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 RCV000030095 SCV000052750 likely pathogenic Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000255037 SCV000321791 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing The c.678_679delCT pathogenic variant in the JAK3 gene has been reported previously in association with SCID (Cattaneo et al., 2013). The deletion causes a frameshift starting with codon Cysteine 227, changes this amino acid to a Proline residue and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Cys227ProfsX49. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.
Blueprint Genetics RCV000255037 SCV000927605 pathogenic not provided 2018-03-21 criteria provided, single submitter clinical testing

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