Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385676 | SCV001585622 | pathogenic | Progressive myoclonic epilepsy | 2022-06-13 | 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 268139). Disruption of this splice site has been observed in individuals with SCARB2-related conditions (PMID: 19847901, 22767442). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the SCARB2 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 SCARB2 are known to be pathogenic (PMID: 19847901). |
Revvity Omics, |
RCV000258872 | SCV002019997 | pathogenic | Action myoclonus-renal failure syndrome | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000258872 | SCV000328633 | not provided | Action myoclonus-renal failure syndrome | no assertion provided | literature only |