Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000054664 | SCV001249560 | pathogenic | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000054664 | SCV001538062 | pathogenic | not provided | 2022-07-25 | 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: 64477). This variant has not been reported in the literature in individuals affected with ACO2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg84*) in the ACO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACO2 are known to be pathogenic (PMID: 30689204, 32519519). |
Martin Pollak Laboratory, |
RCV000054664 | SCV000077354 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |