ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro)

dbSNP: rs772232182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002005970 SCV002273158 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 247 of the PLEKHG5 protein (p.Ala247Pro). This variant is present in population databases (rs772232182, gnomAD 0.02%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1484664). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions.

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