Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000518461 | SCV000613924 | likely pathogenic | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/277086 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Strong co-segregation with disease. However, available data are from a single family. |
| Invitae | RCV000534416 | SCV000629426 | pathogenic | Spastic paraplegia | 2022-07-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 6808). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KIF5A protein function. This missense change has been observed in individual(s) with hereditary spastic paraplegia (PMID: 16489470; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 276 of the KIF5A protein (p.Tyr276Cys). |
| OMIM | RCV000007210 | SCV000027406 | pathogenic | Hereditary spastic paraplegia 10 | 2006-03-01 | no assertion criteria provided | literature only |