ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys)

gnomAD frequency: 0.00001  dbSNP: rs757931203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594854 SCV000708652 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000594854 SCV002577279 likely pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Reported in the heterozygous state in a cohort of infants with parenteral nutrition-associated cholestasis (PNAC) in a higher frequency compared to the non-PNAC cohort (Yang X et al., 2022); This variant is associated with the following publications: (PMID: 35150476)

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