ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.890G>A (p.Arg297His) (rs763894364)

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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 RCV000334632 SCV000410355 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406403 SCV000410356 uncertain significance Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641109 SCV000762731 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2018-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 297 of the DNM2 protein (p.Arg297His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs763894364, ExAC 0.05%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with DNM2-related disease. ClinVar contains an entry for this variant (Variation ID: 327977). 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: "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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