ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) (rs372740994)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000502191 SCV000613170 uncertain significance not specified 2017-05-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502191 SCV000594438 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing
Invitae RCV000649577 SCV000771406 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2017-09-15 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 913 of the DYNC1H1 protein (p.Val913Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs372740994, 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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