ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1818C>T (p.Gly606=) (rs373843969)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000653932 SCV000347997 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384747 SCV000347998 uncertain significance Hereditary motor and sensory neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653932 SCV000775822 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-11-07 criteria provided, single submitter clinical testing This sequence change affects codon 606 of the MFN2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MFN2 protein. This variant is present in population databases (rs373843969, ExAC 0.04%). This variant has not been reported in the literature in individuals with MFN2-related disease. ClinVar contains an entry for this variant (Variation ID: 292376). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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