ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu)

dbSNP: rs776271244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645419 SCV000767164 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2018-09-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PLEKHG5-related disease. This variant is present in population databases (rs776271244, ExAC 0.006%). This sequence change replaces proline with leucine at codon 13 of the PLEKHG5 protein (p.Pro13Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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