ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.708+5CTC[2]

dbSNP: rs863224842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000197438 SCV000255308 likely pathogenic Charcot-Marie-Tooth disease type 2 2023-06-30 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the MFN2 gene. It does not directly change the encoded amino acid sequence of the MFN2 protein. This variant is present in population databases (rs767519297, gnomAD 0.008%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 216874). This variant has been observed in individual(s) with clinical features of MFN2-related conditions (Invitae). 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.
Genesis Genome Database RCV000857097 SCV000999670 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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