ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2316T>A (p.Tyr772Ter)

dbSNP: rs1371940395
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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 RCV001222725 SCV001394841 pathogenic not provided 2019-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCB11 are known to be pathogenic (PMID: 18395098, 20232290). Variants creating premature stop signals at this codon have been observed in individuals affected with ABCB11-related disease (PMID: 21404481, 16871584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr772*) in the ABCB11 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV004570528 SCV005057234 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-12-13 criteria provided, single submitter clinical testing

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