ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) (rs879254288)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236077 SCV000294075 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing The L191P variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. It was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. The L191P variant is a semi-conservative amino acid substitution,which may impact secondary protein structure as these residues differ in some properties. Thissubstitution occurs at a conserved position predicted to be within the GTPase domain of theMFN2 protein (Choi et al., 2015). Additionally, in silico analysis predicts this variant is probablydamaging to the protein structure/function. Based on the currently available information, it isunclear whether this variant is a pathogenic variant or a rare benign variant.
Inherited Neuropathy Consortium RCV001027468 SCV001190036 likely pathogenic Charcot-Marie-Tooth disease no assertion criteria provided research

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