ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3565C>G (p.Leu1189Val)

gnomAD frequency: 0.00002  dbSNP: rs766672265
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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) RCV000731950 SCV000859823 uncertain significance not provided 2018-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258951 SCV003947129 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.3565C>G (p.L1189V) alteration is located in exon 27 (coding exon 26) of the ABCB4 gene. This alteration results from a C to G substitution at nucleotide position 3565, causing the leucine (L) at amino acid position 1189 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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