ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.475-5A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002337646 SCV002637322 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.475-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 4 in the MFN2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775958 SCV004620262 likely benign Charcot-Marie-Tooth disease type 2 2023-06-30 criteria provided, single submitter clinical testing

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