ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)

dbSNP: rs1597607651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000790144 SCV002012346 pathogenic Dejerine-Sottas disease 2021-10-02 criteria provided, single submitter clinical testing The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). A different missense change at the same codon (p.Gly100Gln) has been reported as pathogenic/likely pathogenic with strong evidence (PMID:9585367, PM5). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.956, 3Cnet: 0.994, PP3). Patient's phenotype is considered compatible with Hypertrophic Neuropathy of Dejerine-Sottas (3billion dataset, PP4). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Inherited Neuropathy Consortium RCV000790144 SCV000929535 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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