Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001900410 | SCV002144086 | pathogenic | not provided | 2021-09-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with UNC80-related conditions. This variant is present in population databases (rs538956139, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Arg96*) 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). |
| Victorian Clinical Genetics Services, |
RCV002272515 | SCV002557165 | pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2022-06-24 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as pathogenic. The following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with infantile hypotonia with psychomotor retardation and characteristic facies 2 (MIM#616801). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (4 heterozygotes, 0 homozygotes). (SP) 0803 - This variant has limited previous evidence of pathogenicity. It has been reported once as pathogenic in ClinVar. (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (ClinVar). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |