ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)

dbSNP: rs1295054396
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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 RCV001207260 SCV001378604 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 54 of the DNM2 protein (p.Arg54Gly). This variant is not present in population databases (gnomAD no frequency). 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 (internal data). ClinVar contains an entry for this variant (Variation ID: 938106). 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) indicates that this missense variant is expected to disrupt DNM2 protein function with a positive predictive value of 80%. 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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