ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.559T>C (p.Cys187Arg)

dbSNP: rs2514526553
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340892 SCV004047712 uncertain significance Alagille syndrome due to a JAG1 point mutation criteria provided, single submitter clinical testing The missense variant c.559T>C (p.Cys187Arg) in JAG1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Cysteine at position 187 is changed to a Arginine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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