ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)

dbSNP: rs1557515779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986240 SCV001135175 uncertain significance Charcot-Marie-Tooth disease type 2A2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056713 SCV005698982 pathogenic Charcot-Marie-Tooth disease type 2 2024-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg7*) in the MFN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MFN2 are known to be pathogenic (PMID: 16714318, 16835246, 21715711, 23781337, 26955893). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 801440). For these reasons, this variant has been classified as Pathogenic.

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