ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.800A>G (p.His267Arg)

gnomAD frequency: 0.00001  dbSNP: rs1412618988
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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 RCV000701369 SCV000830169 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-12-31 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 578383). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This missense change has been observed in at least one individual who was not affected with DNM2-related conditions (Invitae). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 267 of the DNM2 protein (p.His267Arg). This variant is not present in population databases (gnomAD no frequency).

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