ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)

dbSNP: rs1247695536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210300 SCV001381780 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 90 of the PLEKHG5 protein (p.Glu90Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. 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"). 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 RCV004033792 SCV005028028 uncertain significance Inborn genetic diseases 2021-05-14 criteria provided, single submitter clinical testing The p.E90G variant (also known as c.269A>G), located in coding exon 4 of the PLEKHG5 gene, results from an A to G substitution at nucleotide position 269. The glutamic acid at codon 90 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, glycine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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