ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met) (rs780247153)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696405 SCV000824966 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2019-06-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 543 of the DYNC1H1 protein (p.Thr543Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs780247153, ExAC 0.006%). 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: "Benign"; 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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