ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr) (rs144763522)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711483 SCV000841852 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV001220061 SCV001392034 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2019-06-20 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 549 of the DNM2 protein (p.Ser549Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs144763522, ExAC 0.03%). This variant has not been reported in the literature in individuals with DNM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 585792). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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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