ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) (rs1557524703)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697709 SCV000826335 pathogenic Charcot-Marie-Tooth disease, type 2 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 213 of the MFN2 protein (p.Ile213Thr). 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 autosomal dominant Charcot-Marie-Tooth disease (PMID: 16043786, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 575481). This variant has been reported to affect MFN2 protein function (PMID: 198122151). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789396 SCV000928751 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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