ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs773371488
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Total submissions: 7
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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 2A2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001232650 SCV001405215 uncertain significance Charcot-Marie-Tooth disease type 2 2024-11-11 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 acid(s) of the MFN2 protein and extend the protein by 4 additional amino acid residues. This variant is present in population databases (rs773371488, gnomAD 0.02%). This frameshift has been observed in individuals with Charcot-Marie-Tooth disease and/or optical atrophy (PMID: 16762064, 28215760, 33841295, 34354735). This variant is also known as c.2257_2258insT and c.2258_2259insT (L753fs). ClinVar contains an entry for this variant (Variation ID: 637433). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 2A2 2020-01-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147548 SCV003836398 likely pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 2022-03-17 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789613 SCV000928978 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001700461 SCV001926028 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700461 SCV001966848 pathogenic not provided no assertion criteria provided clinical testing

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