ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)

gnomAD frequency: 0.00001  dbSNP: rs1366377441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220719 SCV001392728 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-11-27 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. 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. ClinVar contains an entry for this variant (Variation ID: 949286). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 166 of the DNM2 protein (p.Arg166Trp).

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