ClinVar Miner

Submissions for variant NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg)

gnomAD frequency: 0.00003  dbSNP: rs370673772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454146 SCV000537940 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 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.

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