ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3048+1G>A

dbSNP: rs876661121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255615 SCV000321789 pathogenic not provided 2016-04-20 criteria provided, single submitter clinical testing The c.3048+1 G>A splice site variant in the JAG1 gene destroys the canonical splice donor site in intron 24. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Eurofins Ntd Llc (ga) RCV000255615 SCV000709309 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859478 SCV002116426 uncertain significance Alagille syndrome due to a JAG1 point mutation 2022-04-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 265204). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that disruption of this splice site results in skipping of exon 24, but is expected to preserve the integrity of the reading-frame (PMID: 15772854). Disruption of this splice site has been observed in individual(s) with Alagille syndrome (PMID: 15772854). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 24 of the JAG1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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