ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1188dup (p.Lys397Ter)

dbSNP: rs2514519182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002856587 SCV003218658 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys397*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 9585603, 31343788). This variant is also known as K392X. For these reasons, this variant has been classified as Pathogenic.

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