ClinVar Miner

Submissions for variant NC_000001.10:g.(?_12060714)_(12067233_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004579024 SCV005066537 pathogenic Charcot-Marie-Tooth disease type 2 2023-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MFN2 protein in which other variant(s) (p.Arg632Trp) have been determined to be pathogenic (PMID: 29215088). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MFN2-related conditions. This variant results in the deletion of exons 9-16 and part of 17 (c.817-744_1996del) of the MFN2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFN2 are known to be pathogenic (PMID: 16714318, 16835246, 21715711, 23781337, 26955893).

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