ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.36C>A (p.His12Gln)

dbSNP: rs104894622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000168060 SCV000218714 pathogenic Charcot-Marie-Tooth disease, type I 2024-06-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 12 of the PMP22 protein (p.His12Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Dejerine-Sottas neuropathy (PMID: 7728152). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 8434). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects PMP22 function (PMID: 10078969). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000622783 SCV000741249 pathogenic Inborn genetic diseases 2016-01-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195890 SCV001366314 likely pathogenic Roussy-Lévy syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3.
OMIM RCV000008949 SCV000029159 pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 1995-01-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790177 SCV000929568 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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