Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454146 | SCV000537940 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | ||
Center for Pediatric Genomic Medicine, |
RCV000514634 | SCV000609979 | uncertain significance | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000514634 | SCV002197366 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 570 of the PLEKHG2 protein (p.Gly570Arg). This variant is present in population databases (rs370673772, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of leukodystrophy and acquired microcephaly with or without dystonia (PMID: 26539891). ClinVar contains an entry for this variant (Variation ID: 402163). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |