ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) (rs1557539119)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693486 SCV000821357 pathogenic Charcot-Marie-Tooth disease, type 2 2018-06-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MFN2 gene (p.Gln751*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 7 amino acids of the MFN2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with Charcot-Marie-Tooth disease, and was reported to be de novo in one of these two individuals (PMID: 16714318). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789409 SCV000928764 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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