Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596893 | SCV000708418 | likely pathogenic | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000596893 | SCV004468593 | pathogenic | not provided | 2023-03-30 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 501895). This variant has not been reported in the literature in individuals affected with DARS2-related conditions. This variant is present in population databases (rs773706813, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Cys54Trpfs*44) in the DARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DARS2 are known to be pathogenic (PMID: 17384640, 24566671). For these reasons, this variant has been classified as Pathogenic. |