Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001360611 | SCV001556536 | uncertain significance | Hereditary spastic paraplegia 11 | 2020-02-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 536 of the SPG11 protein (p.Gly536Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPG11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004036771 | SCV004955026 | uncertain significance | Inborn genetic diseases | 2023-12-08 | criteria provided, single submitter | clinical testing | The c.1607G>A (p.G536E) alteration is located in exon 8 (coding exon 8) of the SPG11 gene. This alteration results from a G to A substitution at nucleotide position 1607, causing the glycine (G) at amino acid position 536 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |