Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489957 | SCV000576642 | pathogenic | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614) |
Revvity Omics, |
RCV003129872 | SCV003816507 | likely pathogenic | Dubin-Johnson syndrome | 2023-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000489957 | SCV004650943 | pathogenic | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1114Serfs*2) in the ABCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC2 are known to be pathogenic (PMID: 9185779, 16549534, 16952291). This variant is present in population databases (rs775771081, gnomAD 0.02%). 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: 426249). For these reasons, this variant has been classified as Pathogenic. |