Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521926 | SCV000618642 | uncertain significance | not provided | 2017-06-28 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the KIF1C gene. The K449R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K449R variant is observed in 3/5962 (0.05%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the K449R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Paris Brain Institute, |
RCV001321550 | SCV001451146 | pathogenic | Spastic ataxia 2 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001321550 | SCV001512385 | likely benign | Spastic ataxia 2 | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848914 | SCV002105291 | uncertain significance | Hereditary spastic paraplegia | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000521926 | SCV001977673 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000521926 | SCV001980122 | uncertain significance | not provided | no assertion criteria provided | clinical testing |