ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)

gnomAD frequency: 0.00004  dbSNP: rs149949294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223517 SCV000279703 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing The K771R variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K771R variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K771R variant is a conservative amino acid substitution, which occurs in the 14th EGF-like domain and the extracellular domain at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K771R as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001322306 SCV001513171 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485443 SCV002789301 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2021-12-02 criteria provided, single submitter clinical testing

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