Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062029 | SCV001226798 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2021-10-13 | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PRX-related conditions. This variant is present in population databases (rs767504243, ExAC 0.003%). This sequence change replaces glutamic acid with lysine at codon 1208 of the PRX protein (p.Glu1208Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. |
Ambry Genetics | RCV002451263 | SCV002615839 | uncertain significance | Inborn genetic diseases | 2019-11-21 | criteria provided, single submitter | clinical testing | The p.E1208K variant (also known as c.3622G>A), located in coding exon 4 of the PRX gene, results from a G to A substitution at nucleotide position 3622. The glutamic acid at codon 1208 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. |