ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)

dbSNP: rs1555827789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002251338 SCV000250466 pathogenic not provided 2022-05-10 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 29483232, 30074189, 34185059, 10220506)
Labcorp Genetics (formerly Invitae), Labcorp RCV001384081 SCV001583465 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 213539). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 10220506, 30074189, 34185059). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg900*) 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).
Yale Center for Mendelian Genomics, Yale University RCV000845198 SCV000987134 likely pathogenic Atypical coarctation of aorta 2018-02-26 no assertion criteria provided literature only

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