ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) (rs776102509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649584 SCV000771413 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2019-05-31 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 481 of the DYNC1H1 protein (p.Val481Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs776102509, ExAC 0.002%). 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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