Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730645 | SCV000858396 | uncertain significance | not provided | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000730645 | SCV004627324 | uncertain significance | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 769 of the ABCC2 protein (p.Ile769Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 595166). 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 not expected to disrupt ABCC2 protein function with a negative predictive value of 80%. 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. |
Prevention |
RCV003953316 | SCV004783655 | uncertain significance | ABCC2-related condition | 2024-01-22 | criteria provided, single submitter | clinical testing | The ABCC2 c.2306T>C variant is predicted to result in the amino acid substitution p.Ile769Thr. 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. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |