ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.908+1G>C

dbSNP: rs147649016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250139 SCV001424344 likely pathogenic Familial intrahepatic cholestasis type 2 criteria provided, single submitter clinical testing
Invitae RCV002570415 SCV003250066 pathogenic not provided 2022-10-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 973517). Disruption of this splice site has been observed in individuals with ABCB11-related conditions (PMID: 18395098, 24991443). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 of the ABCB11 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 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. For these reasons, this variant has been classified as Pathogenic.
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH RCV003485693 SCV004232470 pathogenic Progressive familial intrahepatic cholestasis type 2 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898245 SCV004714702 pathogenic ABCB11-related disorder 2023-12-21 criteria provided, single submitter clinical testing The ABCB11 c.908+1G>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in the compound heterozygous state in at least one individual with familial progressive intrahepatic cholestasis (see, for example, Li et al. 2020. PubMed ID: 32808743). This variant has not been reported in a large population database (, indicating this variant is rare. Variants that disrupt the consensus splice donor site in ABCB11 are expected to be pathogenic. This variant is interpreted as pathogenic.

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