ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)

gnomAD frequency: 0.00013  dbSNP: rs72549401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851713 SCV002229358 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 6589). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with progressive familial intrahepatic cholestasis (PMID: 9806540). This sequence change creates a premature translational stop signal (p.Arg575*) 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 (rs72549401, gnomAD 0.03%).
Baylor Genetics RCV003472992 SCV004213143 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-09-11 criteria provided, single submitter clinical testing
OMIM RCV000006967 SCV000027163 pathogenic Progressive familial intrahepatic cholestasis type 2 1998-11-01 no assertion criteria provided literature only

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