ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)

dbSNP: rs1555827782
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376921 SCV001574120 likely pathogenic Alagille syndrome due to a JAG1 point mutation 2020-08-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect JAG1 protein function (PMID: 31343788). This variant has been observed in individual(s) with Alagille syndrome (PMID: 16575836, 31343788). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 911 of the JAG1 protein (p.Cys911Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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