ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2916+1G>C

dbSNP: rs1568791920
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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 RCV000008055 SCV002126664 pathogenic Alagille syndrome due to a JAG1 point mutation 2020-12-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 23 of the JAG1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Alagille syndrome (PMID: 9207787). In at least one individual the variant was observed to be de novo. This variant is also known as 3375+1G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 7616). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008055 SCV000028260 pathogenic Alagille syndrome due to a JAG1 point mutation 1997-07-01 no assertion criteria provided literature only

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