ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.674_680del (p.Leu225fs)

dbSNP: rs1060501915
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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 RCV000457530 SCV000547924 pathogenic Charcot-Marie-Tooth disease type 2 2023-06-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 408319). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. This sequence change creates a premature translational stop signal (p.Leu225Profs*7) 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).
Ambry Genetics RCV000623705 SCV000741958 pathogenic Inborn genetic diseases 2016-09-29 criteria provided, single submitter clinical testing

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