ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)

dbSNP: rs1064797270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488278 SCV000575259 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000488278 SCV000857479 pathogenic not provided 2017-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003476175 SCV004213289 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-03-09 criteria provided, single submitter clinical testing
Invitae RCV000488278 SCV004641931 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu656Alafs*9) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of ABCB11-related condition (PMID: 29625052, 34016879). ClinVar contains an entry for this variant (Variation ID: 425233).

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