ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) (rs1557537223)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697850 SCV000826482 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-07-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 710 of the MFN2 protein (p.Leu710Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease (CMT) (PMID: 16714318, 28660751, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000789408 SCV000928763 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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