ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.148C>T (p.Gln50Ter)

dbSNP: rs886039539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255391 SCV000322304 pathogenic not provided 2017-01-04 criteria provided, single submitter clinical testing The Q50X nonsense variant in the JAG1 gene has been reported previously in a patient with evidence of bile duct paucity and meeting three out of five clinical criteria for Alagille syndrome (Colliton et al., 2001). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, Q50X 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.
Gharavi Laboratory, Columbia University RCV000255391 SCV000809292 pathogenic not provided 2018-09-16 no assertion criteria provided research

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