ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.371C>T (p.Thr124Met) (rs121913595)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517355 SCV000614106 pathogenic not provided 2017-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763262 SCV000893900 pathogenic Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate 3; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000015245 SCV000057834 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
GeneReviews RCV000192248 SCV000239896 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192248 SCV000929509 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000638155 SCV000759641 pathogenic Charcot-Marie-Tooth disease, type I 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 124 of the MPZ protein (p.Thr124Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Charcot-Marie-Tooth disease in multiple families (PMID: 12948789, 15159512, 19629567, 25720167) and has also been reported in several unrelated affected individuals (PMID: 9452091, 26234237, 12207153, 10923043, 16279991). ClinVar contains an entry for this variant (Variation ID: 14181). Experimental studies have shown that this missense change decreases myelin protein zero mediated intracellular adhesion (PMID: 20461396, 18337304). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015244 SCV000035503 pathogenic Charcot-Marie-Tooth disease type 2J 2006-06-15 no assertion criteria provided literature only
OMIM RCV000015245 SCV000035504 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2006-06-15 no assertion criteria provided literature only

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