ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.411C>T (p.Gly137=) (rs1558153994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700482 SCV000829239 pathogenic Charcot-Marie-Tooth disease, type I 2019-08-15 criteria provided, single submitter clinical testing This sequence change affects codon 137 of the MPZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MPZ protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Dejerine-Sottas syndrome (DSS)(PMID: 21504504) and has been observed to occur de novo in an individual affected with clinical features of DSS (Invitae). ClinVar contains an entry for this variant (Variation ID: 577671). Experimental studies have shown that this variant results in an aberrant MPZ transcript with an in-frame 13-amino acid deletion (PMID: 21504504). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789490 SCV000928846 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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