ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)

gnomAD frequency: 0.00001  dbSNP: rs72549397
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729078 SCV000856714 pathogenic not provided 2018-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729078 SCV001226178 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1057*) 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 present in population databases (rs72549397, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with ABCB11-related disorders (PMID: 9806540, 27050426). ClinVar contains an entry for this variant (Variation ID: 6596). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472993 SCV004210703 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-09-12 criteria provided, single submitter clinical testing
OMIM RCV000006975 SCV000027171 pathogenic Progressive familial intrahepatic cholestasis type 2 1999-12-01 no assertion criteria provided literature only
Natera, Inc. RCV000006975 SCV002077888 pathogenic Progressive familial intrahepatic cholestasis type 2 2017-11-02 no assertion criteria provided clinical testing

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