ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1081C>T (p.His361Tyr) (rs1569854012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204495 SCV001375704 pathogenic Charcot-Marie-Tooth disease, type 2 2019-06-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 361 of the MFN2 protein (p.His361Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease (PMID: 26916081, 16437557, 21508331). This variant has been reported to affect MFN2 protein function (PMID: 22442078, 20335458). This variant disrupts the p.His361 amino acid residue in MFN2. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789419 SCV000928774 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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