ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2173dup (p.Asp725fs)

dbSNP: rs1568794128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685179 SCV000812652 pathogenic Alagille syndrome due to a JAG1 point mutation 2020-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp725Glyfs*4) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). This variant has been reported in an individual affected with Alagille syndrome (PMID: 9585603). This variant is also known as 2587insG in the literature.
GeneDx RCV003328620 SCV004035604 pathogenic not provided 2023-09-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31343788, 9585603)

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