ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2178+1G>C

dbSNP: rs1459273753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388259 SCV001589180 pathogenic not provided 2020-09-17 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCB11 are known to be pathogenic (PMID: 18395098, 20232290). 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. Disruption of this splice site has been observed in individual(s) with progressive familial intrahepatic cholestasis (PMID: 18395098). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 18 of the ABCB11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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