ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1621A>G (p.Ile541Val)

dbSNP: rs1639383535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200327 SCV001371251 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559281 SCV002948019 uncertain significance Charcot-Marie-Tooth disease type 2 2022-09-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 932495). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with MFN2-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 541 of the MFN2 protein (p.Ile541Val). This variant is not present in population databases (gnomAD no frequency).

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