ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) (rs759212541)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526332 SCV000646027 pathogenic Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2019-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu789Glnfs*12) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759212541, ExAC 0.003%). 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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