Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002233883 | SCV000936546 | uncertain significance | Distal hereditary motor neuropathy type 2 | 2021-04-17 | 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. This sequence change replaces asparagine with lysine at codon 305 of the FBXO38 protein (p.Asn305Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs767430187, ExAC no frequency). This variant has not been reported in the literature in individuals with FBXO38-related disease. 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"). |
| Ambry Genetics | RCV004027582 | SCV002685715 | uncertain significance | not specified | 2019-09-24 | criteria provided, single submitter | clinical testing | The p.N305K variant (also known as c.915T>G), located in coding exon 7 of the FBXO38 gene, results from a T to G substitution at nucleotide position 915. The asparagine at codon 305 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |