ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) (rs879253862)

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Total submissions: 2
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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 RCV000235058 SCV000292352 likely pathogenic Charcot-Marie-Tooth disease, type 2A2A 2015-08-18 criteria provided, single submitter research Likely pathogenic based on conservation and prediction scores (Phylop, LRT, MutationTaster). Identified in homozygous state in individual with peripheral axonal neuropathy; onset at 18 months. Parents are carriers but unaffected clinically.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007825 SCV001167517 likely pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B no assertion criteria provided research

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