ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val) (rs775473086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701434 SCV000830235 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 648 of the DYNC1H1 protein (p.Ile648Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs775473086, ExAC 0.02%). This variant has not been reported in the literature in individuals with DYNC1H1-related disease. 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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