ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.299C>G (p.Ala100Gly) (rs1553141707)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658492 SCV000780260 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV000707644 SCV000836746 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-05-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 100 of the MFN2 protein (p.Ala100Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. 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: 16714318, 22492563). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). The observation of one or more missense substitutions at this codon (p.Ala100Phe) in affected individuals suggests that this may be a clinically significant residue (PMID: 26989944). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000790051 SCV000929441 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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