ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)

dbSNP: rs863224968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201055 SCV000255677 pathogenic Charcot-Marie-Tooth disease type 2A2 2015-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092581 SCV001249142 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV003581583 SCV004291597 pathogenic Charcot-Marie-Tooth disease type 2 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr752*) in the MFN2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the MFN2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 21508331, 34721278; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 217162). For these reasons, this variant has been classified as Pathogenic.

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