ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer)

dbSNP: rs1568792286
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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 RCV000008054 SCV002236630 pathogenic Alagille syndrome due to a JAG1 point mutation 2021-08-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Alagille syndrome (PMID: 9207787). ClinVar contains an entry for this variant (Variation ID: 7615). This sequence change creates a premature translational stop signal (p.Cys880*) 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).
OMIM RCV000008054 SCV000028259 pathogenic Alagille syndrome due to a JAG1 point mutation 1997-07-01 no assertion criteria provided literature only

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