ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.475-1G>C (rs1569834500)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204551 SCV001375762 pathogenic Charcot-Marie-Tooth disease, type 2 2019-07-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the MFN2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with autosomal dominant Charcot-Marie-Tooth disease (PMID: 18425620, 22206013). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFN2 are known to be pathogenic (PMID: 16714318, 21715711, 26955893). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790010 SCV000929400 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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