ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) (rs879253939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235812 SCV000292864 pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing The R400X nonsense variant in the MFN2 gene has been reported previously in a patient with CMT2 who also had another MFN2 missense mutation on the opposite allele (Verhoeven et al., 2006). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Inherited Neuropathy Consortium RCV000789407 SCV000928762 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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