Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176113 | SCV000227714 | uncertain significance | not provided | 2015-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000645441 | SCV000767186 | uncertain significance | Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C | 2022-08-03 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 855 of the PLEKHG5 protein (p.Ser855Leu). This variant is present in population databases (rs768995193, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 195528). 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 | RCV002426844 | SCV002740243 | uncertain significance | Inborn genetic diseases | 2021-06-17 | criteria provided, single submitter | clinical testing | The p.S855L variant (also known as c.2564C>T), located in coding exon 19 of the PLEKHG5 gene, results from a C to T substitution at nucleotide position 2564. The serine at codon 855 is replaced by leucine, an amino acid with dissimilar 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. |