ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) (rs372876881)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000374518 SCV000410373 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284657 SCV000410374 uncertain significance Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545889 SCV000640228 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2017-11-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 591 of the DNM2 protein (p.Thr591Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DNM2-related disease. ClinVar contains an entry for this variant (Variation ID: 327983). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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