ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr)

gnomAD frequency: 0.00023  dbSNP: rs147998447
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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) RCV000262952 SCV000336552 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535314 SCV004736648 uncertain significance ABCB4-related disorder 2024-01-29 criteria provided, single submitter clinical testing The ABCB4 c.760G>A variant is predicted to result in the amino acid substitution p.Ala254Thr. This variant was reported as compound heterozygous in two patients with low phospholipid-associated cholelithiasis. However, there was no additional evidence provided to support the pathogenicity of the variants detected on the opposite alleles (p.Arg788Gln and p.Met516Val)(de Vries et al 2020. PubMed ID: 32893960; Hertel et al 2021. PubMed ID: 34016879). This variant was also reported in a female patient with a second ABCB4 variant that presented with chronic liver disease and pregnancy-associated liver dysfunction (Patient 0014 in Supplementary Table 1, Nayagam et al. 2022. PubMed ID: 35894240). The p.Ala254Thr variant is reported in 0.080% 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.

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