Submissions for variant NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) (rs1555409563)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000540127	SCV000651651	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2017-11-18	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with methionine at codon 1722 of the DYNC1H1 protein (p.Thr1722Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). 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 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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