ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.622G>T (p.Gly208Ter)

dbSNP: rs2122623590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049610 SCV002116461 pathogenic Alagille syndrome due to a JAG1 point mutation 2021-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with JAG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly208*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599).
Mayo Clinic Laboratories, Mayo Clinic RCV002254359 SCV002525840 pathogenic not provided 2021-05-28 criteria provided, single submitter clinical testing PVS1, PM2, PP4

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