Submissions for variant NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met) (rs587780331)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory,University of Chicago	RCV000116914	SCV000151001	likely benign	not specified	2014-05-20	criteria provided, single submitter	clinical testing
Invitae	RCV001210598	SCV001382094	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2019-10-04	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with methionine at codon 1140 of the DYNC1H1 protein (p.Thr1140Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs587780331, ExAC 0.05%). This variant has not been reported in the literature in individuals with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 128934). 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: "Benign"; Align-GVGD: "Class C15"). 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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