Submissions for variant NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) (rs781320162)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649541	SCV000771370	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2017-11-28	criteria provided, single submitter	clinical testing	This sequence change replaces valine with isoleucine at codon 760 of the DYNC1H1 protein (p.Val760Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs781320162, ExAC 0.009%). 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.

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