ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1196+680A>G

dbSNP: rs2071923540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001294723 SCV001483611 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 998817). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 419 of the DNM2 protein (p.Lys419Glu).
Ambry Genetics RCV002418883 SCV002679767 uncertain significance Inborn genetic diseases 2020-03-10 criteria provided, single submitter clinical testing The p.K419E variant (also known as c.1255A>G), located in coding exon 10 of the DNM2 gene, results from an A to G substitution at nucleotide position 1255. The lysine at codon 419 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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