ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter)

dbSNP: rs2067268487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230121 SCV001402591 pathogenic Alagille syndrome due to a JAG1 point mutation 2019-08-25 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). A different variant (c.2990C>A) giving rise to the same protein effect observed here (p.Ser997*) has been observed in an individual with Allagile syndrome (PMID: 26076142) This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser997*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product.

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