ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) (rs121913586)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053594 SCV001217864 pathogenic Charcot-Marie-Tooth disease, type I 2019-11-26 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant 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: 208149). This variant is also known as p.Gly138Arg in the literature. This variant has been reported to affect MPZ protein function (PMID: 29687021). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000194294 SCV000243906 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789484 SCV000928840 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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