ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821159 SCV000961906 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 3553 of the DYNC1H1 protein (p.Leu3553Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine 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 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 disruptive, 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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