ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter) (rs1569871830)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215422 SCV001387167 pathogenic Charcot-Marie-Tooth disease, type 2 2019-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr679*) in the MFN2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the heterozygous state in an individual who was referred for genetic testing for Charcot-Marie-Tooth disease (PMID: 25614874). 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 RCV000789075 SCV000928424 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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