Submissions for variant NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) (rs1555410902)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000531569	SCV000651676	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	2017-06-08	criteria provided, single submitter	clinical testing	This sequence change replaces valine with alanine at codon 2958 of the DYNC1H1 protein (p.Val2958Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a 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, this variant has uncertain impact on DYNC1H1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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