ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)

dbSNP: rs1692870573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382266 SCV001580947 pathogenic not provided 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe774Leufs*14) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cholestasis (PMID: 34016879). ClinVar contains an entry for this variant (Variation ID: 1070201). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002493923 SCV002803877 likely pathogenic Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 2022-01-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462983 SCV004217023 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953697 SCV004776775 likely pathogenic ABCB11-related disorder 2023-12-19 criteria provided, single submitter clinical testing The ABCB11 c.2319dupC variant is predicted to result in a frameshift and premature protein termination (p.Phe774Leufs*14). This variant was reported, along with a second presumptively causative variant, in an individual with intrahepatic cholestasis (SDC Table 3, Hertel et al 2021. PubMed ID: 34016879). This variant has not been reported in a large population database, indicating it is rare. This variant is interpreted as likely pathogenic.

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