ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2258dup (p.Gln754fs) (rs773371488)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986248 SCV001135184 uncertain significance Charcot-Marie-Tooth disease, type 2A2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001232650 SCV001405215 uncertain significance Charcot-Marie-Tooth disease, type 2 2019-08-14 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MFN2 gene (p.Gln754Alafs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acids of the MFN2 protein and extend the protein by an additional 4 amino acids. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in the heterozygous state in an individual affected with Charcot-Marie-Tooth disease (PMID: 16762064). This variant has also been observed in combination with another MFN2 variant in an individual with Charcot-Marie-Tooth disease; however, this variant did not segregate with disease in affected family members (PMID: 28215760). 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.
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico RCV000986248 SCV001424047 pathogenic Charcot-Marie-Tooth disease, type 2A2A 2020-01-26 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789613 SCV000928978 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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