ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn)

dbSNP: rs754691182
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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 RCV000688919 SCV000816549 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2024-09-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 755 of the DNM2 protein (p.Thr755Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital myopathy (PMID: 25214167). This variant is also known as c.C2252A (p.T751N). ClinVar contains an entry for this variant (Variation ID: 568530). Invitae Evidence 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 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.

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