ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)

gnomAD frequency: 0.00002  dbSNP: rs756851126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064300 SCV001229192 uncertain significance Charcot-Marie-Tooth disease type 2 2022-02-03 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MFN2 protein function. ClinVar contains an entry for this variant (Variation ID: 858427). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. This variant is present in population databases (rs756851126, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 180 of the MFN2 protein (p.Ser180Arg).
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174295 SCV001337426 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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