Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001058021 | SCV001222556 | uncertain significance | Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C | 2022-10-16 | 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 176 of the PLEKHG5 protein (p.Gly176Ala). This variant is present in population databases (rs531190324, gnomAD 0.01%). 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: 853243). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV002348425 | SCV002644227 | uncertain significance | Inborn genetic diseases | 2024-08-11 | criteria provided, single submitter | clinical testing | The c.527G>C (p.G176A) alteration is located in exon 7 (coding exon 6) of the PLEKHG5 gene. This alteration results from a G to C substitution at nucleotide position 527, causing the glycine (G) at amino acid position 176 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV004691326 | SCV005187225 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Department of Pathology and Laboratory Medicine, |
RCV001058021 | SCV006057020 | uncertain significance | Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C | 2021-11-17 | criteria provided, single submitter | research |