ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.601A>G (p.Ile201Val)

gnomAD frequency: 0.00006  dbSNP: rs969140793
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952286 SCV002187545 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2021-09-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 201 of the DNM2 protein (p.Ile201Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. 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 disruptive. 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.

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