ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val)

gnomAD frequency: 0.00001  dbSNP: rs1381561772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991912 SCV001143770 uncertain significance not provided 2019-06-14 criteria provided, single submitter clinical testing
Invitae RCV001349752 SCV001544112 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2023-06-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 679 of the DNM2 protein (p.Ile679Val). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DNM2 protein function. ClinVar contains an entry for this variant (Variation ID: 804753). 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 0.007%).

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