ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del)

dbSNP: rs1569842627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469290 SCV002765787 likely pathogenic not provided 2022-06-14 criteria provided, single submitter clinical testing In-frame deletion of 4 amino acids in a non-repeat region predicted to critically alter the protein; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24863639, 22926664)
Labcorp Genetics (formerly Invitae), Labcorp RCV002535815 SCV003522721 uncertain significance Charcot-Marie-Tooth disease type 2 2022-06-16 criteria provided, single submitter clinical testing This variant, c.677_688del, results in the deletion of 4 amino acid(s) of the MFN2 protein (p.Val226_Ser229del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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. Studies have shown that this variant alters MFN2 gene expression (PMID: 22926664). ClinVar contains an entry for this variant (Variation ID: 637940). This variant has been observed in individual(s) with autosomal dominant MFN2-related conditions (PMID: 22926664). It has also been observed to segregate with disease in related individuals.
Inherited Neuropathy Consortium RCV000790323 SCV000929731 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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