ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)

dbSNP: rs1644550472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222295 SCV001394389 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2019-06-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PLEKHG5 are known to be pathogenic (PMID: 17564964, 23777631). This variant has not been reported in the literature in individuals with PLEKHG5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met480Alafs*174) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein product.

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