ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu)

dbSNP: rs960528373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001889797 SCV002138974 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2022-02-19 criteria provided, single submitter clinical testing This variant, c.2165_2170dup, results in the insertion of 2 amino acid(s) of the PLEKHG5 protein (p.Glu722_Glu723dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002425161 SCV002727364 uncertain significance Inborn genetic diseases 2019-12-19 criteria provided, single submitter clinical testing The c.2165_2170dupAGGAAG variant (also known as p.E722_E723dup), located in coding exon 18 of the PLEKHG5 gene, results from an in-frame duplication of AGGAAG at nucleotide positions 2165 to 2170. This results in the duplication of 2 extra residues (EE) between codons 722 and 723. These amino acid positions are poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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