ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1481G>A (p.Arg494His)

gnomAD frequency: 0.00005  dbSNP: rs753652201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728643 SCV000856243 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Mendelics RCV002249440 SCV002516816 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535813 SCV004708512 uncertain significance ABCB4-related disorder 2024-01-16 criteria provided, single submitter clinical testing The ABCB4 c.1481G>A variant is predicted to result in the amino acid substitution p.Arg494His. This variant has been reported in the heterozygous state in an individual with cholelithiasis (Gouveia et al. 2020. PubMed ID: 32650689). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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