ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.910G>T (p.Ala304Ser)

gnomAD frequency: 0.00001  dbSNP: rs773840926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000294006 SCV000344633 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518116 SCV003740620 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.910G>T (p.A304S) alteration is located in exon 9 (coding exon 8) of the ABCB4 gene. This alteration results from a G to T substitution at nucleotide position 910, causing the alanine (A) at amino acid position 304 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004543135 SCV004779479 uncertain significance ABCB4-related disorder 2024-01-01 criteria provided, single submitter clinical testing The ABCB4 c.910G>T variant is predicted to result in the amino acid substitution p.Ala304Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of Latino descent in gnomAD. An alternate nucleotide change affecting the same amino acid (p.Ala304Asp) has been reported along with a second ABCB4 variant in an individual with intrahepatic cholestasis (Table S4, patient 11, Hertel et al. 2021. PubMed ID: 34016879). At this time, the clinical significance of the c.910G>T (p.Ala304Ser) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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