Submissions for variant NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) (rs376679623)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649563	SCV000771392	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2019-09-10	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 2734 of the DYNC1H1 protein (p.Val2734Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs376679623, 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV001091158	SCV001247030	likely benign	not provided	2020-02-01	criteria provided, single submitter	clinical testing

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