Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003787891 | SCV004604725 | pathogenic | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 7 of the SEC23B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). This variant is present in population databases (rs371646735, gnomAD 0.01%). Disruption of this splice site has been observed in individuals with congenital dyserythropoietic anemia type II (PMID: 27471141, 29901818). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |