ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)

gnomAD frequency: 0.00001  dbSNP: rs752919965
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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) RCV000732890 SCV000860888 pathogenic not provided 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV000732890 SCV001408610 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys930Glufs*79) 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 (rs752919965, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with progressive familial intrahepatic cholestasis 2 (PMID: 16039748, 26678486). This variant is also known as K930X and c.2787_2788insGAGAT. ClinVar contains an entry for this variant (Variation ID: 6594). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000732890 SCV004035424 pathogenic not provided 2023-03-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24115678, 16039748, 26678486, 28733223, 29625052, 27368585, 34016879)
Baylor Genetics RCV003460430 SCV004214834 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-03-16 criteria provided, single submitter clinical testing
OMIM RCV000006973 SCV000027169 pathogenic Progressive familial intrahepatic cholestasis type 2 2005-09-01 no assertion criteria provided literature only

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