ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.910C>T (p.Gln304Ter)

dbSNP: rs863223649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198219 SCV000250457 pathogenic not provided 2019-11-26 criteria provided, single submitter clinical testing Nonsense 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 16575836, 31343788)
Invitae RCV000817591 SCV000958160 pathogenic Alagille syndrome due to a JAG1 point mutation 2018-10-18 criteria provided, single submitter clinical testing 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 observed in an individual affected with Alagille syndrome (PMID: 16575836). ClinVar contains an entry for this variant (Variation ID: 213530). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln304*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product.

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