ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.691_692AG[1] (p.Arg231fs) (rs876660978)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223264 SCV000278987 pathogenic not provided 2017-05-02 criteria provided, single submitter clinical testing The c.693_694delAG pathogenic variant in the JAG1 gene has been reported previously in association with Alaglle syndrome (Li et al., 1997; Krantz et al., 1998). The deletion causes a frameshift starting with codon Arginine 231, changes this amino acid to a Serine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Arg231SerfsX10. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. c.693_694delAG 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.
OMIM RCV000008056 SCV000028261 pathogenic Alagille syndrome 1 1997-07-01 no assertion criteria provided literature only

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