Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002214436 | SCV002497529 | likely pathogenic | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002214436 | SCV002942120 | uncertain significance | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCB4 protein function. ClinVar contains an entry for this variant (Variation ID: 1676067). This variant has not been reported in the literature in individuals affected with ABCB4-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 384 of the ABCB4 protein (p.Gly384Glu). |
Prevention |
RCV004529100 | SCV004104710 | uncertain significance | ABCB4-related disorder | 2022-09-26 | criteria provided, single submitter | clinical testing | The ABCB4 c.1151G>A variant is predicted to result in the amino acid substitution p.Gly384Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-87073058-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |