ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) (rs770593694)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685826 SCV000813325 pathogenic Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2019-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg848*) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770593694, ExAC 0.002%). This variant has not been reported in the literature in individuals with PLEKHG5-related disease. Loss-of-function variants in PLEKHG5 are known to be pathogenic (PMID: 17564964, 23777631). For these reasons, this variant has been classified as Pathogenic.

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