Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001366907 | SCV001563227 | uncertain significance | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SPART-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 637 of the SPART protein (p.Glu637Lys). ClinVar contains an entry for this variant (Variation ID: 644380). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |
Genome Diagnostics Laboratory, |
RCV001849102 | SCV002105797 | uncertain significance | Hereditary spastic paraplegia | 2016-12-12 | criteria provided, single submitter | clinical testing |