Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001040228 | SCV001203789 | uncertain significance | Hereditary spastic paraplegia 11 | 2022-04-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 6 of the SPG11 protein (p.Gly6Ala). This variant is not present in population databases (gnomAD no frequency). 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: "Not Available"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 838640). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. |
| Ambry Genetics | RCV002409386 | SCV002717299 | uncertain significance | Inborn genetic diseases | 2022-06-07 | criteria provided, single submitter | clinical testing | The p.G6A variant (also known as c.17G>C), located in coding exon 1 of the SPG11 gene, results from a G to C substitution at nucleotide position 17. The glycine at codon 6 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |