Submissions for variant NM_000443.4(ABCB4):c.2581T>G (p.Leu861Val)

gnomAD frequency: 0.00004  dbSNP: rs112610863

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595345	SCV000707898	uncertain significance	not provided	2017-04-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002531087	SCV003757669	uncertain significance	Inborn genetic diseases	2024-02-21	criteria provided, single submitter	clinical testing	The c.2581T>G (p.L861V) alteration is located in exon 21 (coding exon 20) of the ABCB4 gene. This alteration results from a T to G substitution at nucleotide position 2581, causing the leucine (L) at amino acid position 861 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004527677	SCV004105459	uncertain significance	ABCB4-related disorder	2023-12-24	criteria provided, single submitter	clinical testing	The ABCB4 c.2581T>G variant is predicted to result in the amino acid substitution p.Leu861Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.