ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) (rs267607241)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541724 SCV000636247 pathogenic Charcot-Marie-Tooth disease, type I 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 114 of the MPZ protein (p.Ile114Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 26310628, Invitae). ClinVar contains an entry for this variant (Variation ID: 14180). This variant has been reported to affect MPZ protein function (PMID: 29687021). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789491 SCV000928847 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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