ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) (rs143585428)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235252 SCV000293244 uncertain significance not provided 2019-10-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26392352)
Invitae RCV000535663 SCV000646068 uncertain significance Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 28 of the PLEKHG5 protein (p.Pro28Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs143585428, ExAC 0.06%). This variant has been reported in individuals affected with Charcot-Marie-Tooth disease (PMID: 26392352). ClinVar contains an entry for this variant (Variation ID: 245987). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000235252 SCV001713781 uncertain significance not provided 2020-07-13 criteria provided, single submitter clinical testing

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