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
Invitae RCV000729078 SCV001226178 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 6596). This premature translational stop signal has been observed in individual(s) with ABCB11-related disorders (PMID: 9806540, 27050426). This variant is present in population databases (rs72549397, gnomAD 0.008%). 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).
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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