Submissions for variant NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) (rs1271427633)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649560	SCV000771389	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2019-04-06	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with histidine at codon 4038 of the DYNC1H1 protein (p.Asn4038His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. 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: "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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