Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001283842 | SCV002020824 | pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2020-03-20 | criteria provided, single submitter | clinical testing | |
Pathology and Clinical Laboratory Medicine, |
RCV001283842 | SCV002073806 | pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001871648 | SCV002235952 | pathogenic | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg137*) in the UNC80 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNC80 are known to be pathogenic (PMID: 26545877, 26708751, 26708753). This variant has not been reported in the literature in individuals affected with UNC80-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 993028). |
Biochemical Molecular Genetic Laboratory, |
RCV001283842 | SCV001469273 | likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2020-08-07 | no assertion criteria provided | clinical testing |