ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)

gnomAD frequency: 0.00044  dbSNP: rs139042803
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734400 SCV000862539 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001161330 SCV001323196 uncertain significance Progressive familial intrahepatic cholestasis type 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001162879 SCV001324858 uncertain significance Cholestasis, intrahepatic, of pregnancy, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000734400 SCV002117309 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485938 SCV002778193 uncertain significance Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 2022-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535876 SCV004761350 uncertain significance ABCB4-related disorder 2024-03-07 no assertion criteria provided clinical testing The ABCB4 c.3296A>G variant is predicted to result in the amino acid substitution p.Glu1099Gly. This variant has been reported in two families with low phospholipid associated choletithiasis and/or intrahepatic cholestasis of pregnancy; however, pathogenicity was not established (reported as NM_018849.2:c.3317G>A (p.E1106G) in Dröge et al 2017. PubMed ID: 28733223). This variant is reported in 0.13% of alleles in individuals of Ashkenazi Jewish 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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