ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723dup) (rs113541584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000373626 SCV000358739 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000483074 SCV000569401 likely benign not specified 2017-02-20 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 RCV000534497 SCV000646022 uncertain significance Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2018-06-28 criteria provided, single submitter clinical testing This variant, c.2166_2168dupGGA, results in the insertion of 1 amino acid to the PLEKHG5 protein (p.Glu723dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs756583787, ExAC 0.07%). This variant has not been reported in the literature in individuals with a PLEKHG5-related disease. ClinVar contains an entry for this variant (Variation ID: 297949). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, this variant has uncertain impact on PLEKHG5 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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