ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro) (rs763492075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235085 SCV000292345 likely pathogenic Charcot-Marie-Tooth disease, type 2A2A 2015-08-18 criteria provided, single submitter research This variant affects a highly conserved residue in MFN2 and is predicted damaging by MutationTaster, SIFT, Polyphen. Patient has peripheral neuropathy.

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