ClinVar Miner

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

dbSNP: rs121913586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053594 SCV001217864 pathogenic Charcot-Marie-Tooth disease, type I 2021-12-24 criteria provided, single submitter clinical testing This variant is also known as p.Gly138Arg. ClinVar contains an entry for this variant (Variation ID: 208149). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects MPZ 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. For these reasons, this variant has been classified as Pathogenic. 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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 167 of the MPZ protein (p.Gly167Arg). This variant is not present in population databases (gnomAD no frequency).
GeneReviews RCV000194294 SCV000243906 not provided Charcot-Marie-Tooth disease type 1B no assertion provided literature only
Inherited Neuropathy Consortium RCV000789484 SCV000928840 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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