Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731631 | SCV000859475 | pathogenic | not provided | 2018-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000731631 | SCV004617449 | pathogenic | not provided | 2023-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 595943). This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. This variant is present in population databases (rs559137047, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln1194*) 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). |