Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000262952 | SCV000336552 | uncertain significance | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |