ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.720C>G (p.Phe240Leu) (rs864622480)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000502695 SCV000598141 likely pathogenic Hereditary motor and sensory neuropathy with optic atrophy 2016-12-06 criteria provided, single submitter clinical testing This variant was found in a patient diagnosed with complex Charcot Marie Tooth disease and optic atrophy. The patient harbours a large duplication in the CMT1A region, in addition to this variant in MFN2 gene. The identification of these two mutations explains the complex phenotype of this patient.

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