Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001202591 | SCV001373707 | uncertain significance | Hereditary spastic paraplegia 11 | 2019-09-15 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SPG11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 1374 of the SPG11 protein (p.Phe1374Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. |
| Ambry Genetics | RCV004963178 | SCV005504084 | uncertain significance | Inborn genetic diseases | 2024-08-04 | criteria provided, single submitter | clinical testing | The c.4122C>G (p.F1374L) alteration is located in exon 24 (coding exon 24) of the SPG11 gene. This alteration results from a C to G substitution at nucleotide position 4122, causing the phenylalanine (F) at amino acid position 1374 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |