ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) (rs758246840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516502 SCV000613149 uncertain significance not specified 2016-11-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416279 SCV000493452 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Invitae RCV000641098 SCV000762720 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2017-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 486 of the DNM2 protein (p.Ile486Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs758246840, ExAC 0.006%). This variant has not been reported in the literature in individuals with DNM2-related disease. ClinVar contains an entry for this variant (Variation ID: 374611). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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