ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu)

dbSNP: rs1553173393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605500 SCV000732078 likely benign not specified 2017-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001860346 SCV002306389 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-07-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 517681). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2142_2153dup, results in the insertion of 4 amino acid(s) to the PLEKHG5 protein (p.Glu720_Glu723dup), but otherwise preserves the integrity of the reading frame.

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