ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.30del (p.Ser11fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004719414 SCV005202151 pathogenic Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Neuropathy, congenital hypomyelinating, 2 2024-09-11 criteria provided, single submitter clinical testing The variant c.30delC (p.(Ser11AlafsTer36)) in exon 1 of the MPZ-gene is not found in the gnomAD database. This variant has a pathogenic computational verdict based on in silico prediction algorithms. The variation generates a 'Frameshift' as coding effect. The mutation was found to be in heterozygous state in a female patient. ACMG criteria used for classification: PVS1_vstr, PM2_sup.

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