ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del)

dbSNP: rs1478175861
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288126 SCV001475018 uncertain significance not provided 2020-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001288126 SCV002578675 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing Identified with a second variant with unknown segregation in an individual with severe onset axonal neuropathy in the published literature (Polke et al., 2011); In-frame deletion of one amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24819634, 21715711)
Labcorp Genetics (formerly Invitae), Labcorp RCV005089307 SCV005833888 likely pathogenic Charcot-Marie-Tooth disease type 2 2024-09-12 criteria provided, single submitter clinical testing This variant, c.113_115del, results in the deletion of 1 amino acid(s) of the MFN2 protein (p.Lys38del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 21715711). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30734). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000023712 SCV000045003 pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 2011-07-12 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790039 SCV000929429 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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