ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1826_1827dup (p.Ile610fs)

dbSNP: rs1693477912
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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 RCV001050462 SCV001214570 pathogenic not provided 2020-08-14 criteria provided, single submitter clinical testing This variant has been observed in individuals with progressive familial intrahepatic cholestasis (PMID: 26678486, 28733223, 20232290). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.H609HfsX46 in the literature. ClinVar contains an entry for this variant (Variation ID: 847009). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCB11 are known to be pathogenic (PMID: 18395098, 20232290). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile610Glnfs*45) in the ABCB11 gene. It is expected to result in an absent or disrupted protein product.

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