ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) (rs202136528)

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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 RCV000991913 SCV001143771 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Invitae RCV001035483 SCV001198812 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 746 of the DNM2 protein (p.Thr746Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs202136528, ExAC 0.01%). This variant has not been reported in the literature in individuals with DNM2-related conditions. 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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