Submissions for variant NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val) (rs1187943520)

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	RCV000502770	SCV000594444	likely benign	not specified	2016-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV001064644	SCV001229555	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2019-11-20	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with valine at codon 2993 of the DYNC1H1 protein (p.Ile2993Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 434989). 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: "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.

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