Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000520704 | SCV000616753 | pathogenic | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | The G199R variant in the KIF1A gene has been reported previously as a de novo finding in a child with spastic paraplegia with central nervous system involvement (Hotchkiss et al., 2016). The G199R variant is not observed in large population cohorts (Lek et al., 2016). The G199R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position within the kinesin motor domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G199R as a pathogenic variant. |
| SIB Swiss Institute of Bioinformatics | RCV001078151 | SCV001426709 | likely pathogenic | Intellectual disability, autosomal dominant 9 | 2020-06-15 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for NESCAV syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Assumed de novo, but no confirmation of paternity and maternity (PM6); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2). |
| Institute of Medical Genetics and Applied Genomics, |
RCV004584738 | SCV005073723 | likely pathogenic | Autosomal dominant non-syndromic intellectual disability | 2024-07-08 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV001078151 | SCV001244202 | pathogenic | Intellectual disability, autosomal dominant 9 | 2020-04-16 | no assertion criteria provided | literature only |