ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)

dbSNP: rs121913586
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000198029 SCV000255414 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; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E 2014-03-11 criteria provided, single submitter clinical testing
Invitae RCV001851867 SCV002212021 pathogenic Charcot-Marie-Tooth disease, type I 2020-12-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects MPZ protein function (PMID: 29687021). This missense change has been observed in individual(s) with Dejerine-Sottas disease (PMID: 7506095, 10399750, 12242557). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 14170). This variant is also known as p.Gly138Arg in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 167 of the MPZ protein (p.Gly167Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
OMIM RCV000015233 SCV000035492 pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 1993-11-01 no assertion criteria provided literature only
GeneReviews RCV000032123 SCV000055676 pathologic Dejerine-Sottas disease 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000032123 SCV000928794 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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