Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498777 | SCV000589668 | uncertain significance | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | The E755K variant in the KIF5A gene has been reported previously in a patient of HSP and this individual's father who displayed subclinical signs of HSP; however, not all genes associated with HSP were evaluated in this study (Crimella et al., 2012). The E755K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E755K 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 that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E755K as a variant of uncertain significance. |
Invitae | RCV001852613 | SCV002264479 | likely benign | Spastic paraplegia | 2023-05-27 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000030759 | SCV000053420 | pathogenic | Hereditary spastic paraplegia 10 | 2012-08-01 | no assertion criteria provided | literature only |