ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.270dup (p.Pro91fs)

dbSNP: rs863223667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198317 SCV000250480 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing Reported using alternate nomenclature as 684insG in a child with peripheral pulmonic stenosis, dysmorphic features, and elevated liver enzymes (PMID: 10213047); Frameshift 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: 9585603, 10213047)
Eurofins Ntd Llc (ga) RCV000198317 SCV000709291 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing
OMIM RCV002284195 SCV000028267 pathogenic Alagille syndrome due to a JAG1 point mutation 1999-05-07 no assertion criteria provided literature only

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