ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.36C>A (p.His12Gln) (rs104894622)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168060 SCV000218714 pathogenic Charcot-Marie-Tooth disease, type I 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 12 of the PMP22 protein (p.His12Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This sequence change has been reported in the literature and is not present in population databases. Sequence analysis identified this missense change as de novo in a patient with Dejerine-Sottas syndrome, an early onset demyelinating motor and sensory neuropathy (PMID: 7728152). For these reasons, this sequence change 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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