ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1706T>C (p.Ile569Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV005234905 SCV005882868 uncertain significance Progressive familial intrahepatic cholestasis type 2 2025-02-14 criteria provided, single submitter clinical testing The c.1706T>C variant is not present in publicly available population databases like 1000 Genomes, gnomAD, EVS, Indian Exome Database or our internal database. This variant has neither been published in literature in individuals affected with ABCB11-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen-2, MutationTaster2021, CADD, Franklin, Varsome etc predicted this variant to be likely deleterious however these predictions were not confirmed by published functional studies.

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