ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2561del (p.Pro854fs)

dbSNP: rs2105912281
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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 RCV001930238 SCV002185247 pathogenic not provided 2021-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro854Leufs*4) in the ABCB11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCB11 are known to be pathogenic (PMID: 18395098, 20232290). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ABCB11-related conditions. This variant is not present in population databases (gnomAD no frequency).

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