ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1846G>C (p.Glu616Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989378 SCV004808172 uncertain significance Cholestasis, intrahepatic, of pregnancy, 3 2024-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004369932 SCV004901661 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1846G>C (p.E616Q) alteration is located in exon 15 (coding exon 14) of the ABCB4 gene. This alteration results from a G to C substitution at nucleotide position 1846, causing the glutamic acid (E) at amino acid position 616 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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