Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breda Genetics srl | RCV001029754 | SCV001190335 | likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | criteria provided, single submitter | clinical testing | The variant creates a shift in the reading frame which is predicted to result in a premature stop codon 4 amino acids downstream which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. Pathogenic nonsense mutations in the UNC80 gene have been previously reported (ClinVar). | |
Institute Of Human Genetics Munich, |
RCV001029754 | SCV002764942 | pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2021-04-13 | criteria provided, single submitter | clinical testing |