ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn)

gnomAD frequency: 0.00005  dbSNP: rs542531545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001995228 SCV002250856 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 776 of the PLEKHG5 protein (p.Asp776Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs542531545, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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