ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_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
GeneDx RCV000605126 SCV000728031 likely benign not specified 2018-03-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000281434 SCV000358740 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000688917 SCV000816547 uncertain significance Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2018-08-03 criteria provided, single submitter clinical testing This variant, c.2163_2168dupGGAGGA, results in the insertion of 2 amino acids to the PLEKHG5 protein (p.Glu722_Glu723dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs756583787, ExAC 0.2%). This variant has not been reported in the literature in individuals with PLEKHG5-related disease. ClinVar contains an entry for this variant (Variation ID: 297950). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids 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.

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