ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1395+3A>G

dbSNP: rs886044220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320018 SCV000343984 pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV001218520 SCV001390405 pathogenic Alagille syndrome due to a JAG1 point mutation 2023-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the JAG1 gene. It does not directly change the encoded amino acid sequence of the JAG1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Alagille syndrome (PMID: 10220506, 11058898, 24748328). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is also known as c.1808+3A>G. ClinVar contains an entry for this variant (Variation ID: 289599). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in aberrant splicing of exon 11 and introduces a premature termination codon (PMID: 11058898). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Genomics And Bioinformatics Analysis Resource, Columbia University RCV001218520 SCV004024092 likely pathogenic Alagille syndrome due to a JAG1 point mutation no assertion criteria provided research

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